EAHAD Logo

Factor IX Gene (F9) Variant Database  

F9
  • Home
  • Advanced Search
  • Variants
    • Variant Map
    • F9 cDNA-Protein Translation
    • New Variant?
    • Variant Statistics
    • World Map
  • AA Alignments
    • FIX Ten Species
    • IX-VII-X-PC-CHY
  • Resources
    • Published References
    • Coagbase Data
    • Uniprot FA9
  • Structures
  • Support
    • Submit Variants
    • Organisations
    • EAHAD DB
    • Contact Us
    • Help

FIX Variant References

Publications listing F9 variants are listed below with a link to their PubMed abstracts. This database also contains unpublished variants curated in the same way as published variants.

Author

Year

Title

PubMed

1990 Abstracts of papers presented at a joint meeting of the British Society for Haemostasis and Thrombosis and Nederlandse Vereniging voor Trombose en Hemostase, Charing Cross and Westminster Medical School, London, 17-18 September 1990 2093364
Agarwala KL 1994 Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169 8172892
Aguilar-Martinez P 1994A A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient 8199596
Aguilar-Martinez P 1994B Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications 8076946
Alkan M 1991 Factor IXBasel: a Swiss family with severe haemophilia B having a point mutation in EGF type B domain 2014182
Anson DS 1984 The gene structure of human anti-haemophilic factor IX 6329734
Anson DS 1988 Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients 2846283
Arruda VR 2001 Posttranslational modifications of recombinant myotube-synthesized human factor IX 11133752
Attali O 1999 Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations 10595634
Attree O 1989 Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior 2714791
Awidi A 2011 FIX mutation spectrum in haemophilia B patients from Jordan: identification of three novel mutations 20695909
Bajaj SP 1990 Experimental and theoretical evidence supporting the role of Gly363 in blood coagulation factor IXa (Gly193 in chymotrypsin) for proper activation of the proenzyme 2303434
Balraj P 2012 Factor IX mutations in haemophilia B patients in Malaysia: a preliminary study 22870602
Belvini D 2005 Molecular genotyping of the Italian cohort of patients with hemophilia B. 15921378
Bentley AK 1986 Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4 3009023
Bernardi F 1985 Gene deletion in an Italian haemophilia B subject 4045960
Bertina RM 1978 The abnormal factor IX of hemophilia B+ variants 734633
Bertina RM 1990 Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX 2162822
Bicocchi MP 2006 Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B 16643212
Bottema CD 1989A Direct carrier testing in 14 families with haemophilia B 2570235
Bottema CD 1989B Hemophilia B in a male with a four-base insertion that arose in the germline of his mother 2557585
Bottema CD 1990A Mutations at arginine residues in two Asian hemophilia B patients 1970868
Bottema CD 1990B A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B 2372508
Bottema CD 1990C The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians 2220823
Bottema CD 1991 Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as 'spacer' elements 1680287
Bottema CD 1991 Why does the human factor IX gene have a G + C content of 40%? 1897528
Bottema CD 1993 The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene 8314564
Bray GL 1986 Partial factor IX protein in a pedigree with hemophilia B due to a partial gene deletion 3514676
Caglayan SH 1994 Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411. 7981722
Caglayan SH 1997 Mutations associated with hemophilia B in Turkish patients 9222764
Camerino G 1985 A new MspI restriction fragment length polymorphism in the hemophilia B locus 2411652
Chan DK 2000 A comparison of polymorphism in the 3'-untranslated region of the prothrombin gene between Chinese and Caucasians in Australia 11167771
Chan V 1991 Molecular defects in haemophilia B: detection by direct restriction enzyme analysis 1680373
Chan V 1995 A new hemophilia B mutation in the propeptide region of the FIX gene 7572994
Chan V 1998 Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome. 9590153
Chen SH 1985 An intragenic deletion of the factor IX gene in a family with hemophilia B 3001143
Chen SH 1988 An insertion within the factor IX gene: hemophilia BEl Salvador 2831715
Chen SH 1989 Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins 2472424
Chen SH 1989 Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B 2929599
Chen SH 1990 Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1 2239965
Chen SH 1991 Splice junction mutations in factor IX gene resulting in severe hemophilia B 2020563
Chen SH 1991 CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series 2066105
Chen SH 1993 Five novel factor IX mutations in unrelated hemophilia B families. 8518801
Chen SH 1995 Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families 7873393
Chu K 1996 A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism 8833911
Costa JM 2000 Fast and efficient mutation detection method using multiplex PCR and cycle sequencing--application to haemophilia B 10739381
Costa JM 2000 Somatic mosaicism and compound heterozygosity in female hemophilia B 10942410
Coyle TE 1994 Moderate hemophilia B Leyden: identification by polymerase chain reaction, sequencing, and oligomer restriction 7677806
Crossley M 1989 Unusual case of haemophilia B 2565449
Crossley M 1990 Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B 2342576
Crossley M 1990 A less severe form of Haemophilia B Leyden 2388855
Crossley M 1992 Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter 1631558
David D 1993 Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B 8257988
David D 1998 Five novel factor IX mutations in unrelated hemophilia B patients 9452115
Davis LM 1987 Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B 3790720
de la Salle C 1993A A deletion located in the 3' non translated part of the factor IX gene responsible for mild haemophilia B 8236150
de la Salle C 1993B The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa. 8295821
Demers DB 1990 Identification of a factor IX point mutation using SSCP analysis and direct sequencing 2216751
Denton PH 1988 Hemophilia B Durham: a mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction 3262389
Di Scipio RG 1978 Activation of human factor IX (Christmas factor) 659613
Diuguid DL 1986 Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor 3461460
Diuguid DL 1989 Molecular defects of factor IX Chicago-2 (Arg 145----His) and prothrombin Madrid (Arg 271----cys): arginine mutations that preclude zymogen activation 2752109
Driscoll MC 1989 A codon 338 nonsense mutation in the factor IX gene in unrelated hemophilia B patients: factor IX338 New York 2752145
Driscoll MC 1996 Heteroduplex analysis in hemophilia B: detection of two novel factor IX gene mutations 8602635
Drost JB 2000 Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans 10980527
Elmahmoudi H 2011 dentification of novel and recurrent mutations in Tunisian haemophilia B patients. 21118338
Enayat MS 2004 Mutation analysis in F9 gene of 17 families with haemophilia B from Iran 15569175
Figueiredo MS 1993 Molecular analysis of hemophilia B in Brazilian patients 8298527
Fraser BM 1992 Identification of factor IX mutations in haemophilia B: application of polymerase chain reaction and single strand conformation analysis 1740319
Freedenberg DL 1987 MspI polymorphic site within the factor IX gene. Localization of the site and an improved method for detection 2439437
Geddes VA 1989 A moderate form of hemophilia B is caused by a novel mutation in the protease domain of factor IXVancouver 2494175
Ghanem N 1993 Twenty-four novel hemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample 8055323
Ghosh K 2009 Spectrum of factor IX gene mutations causing haemophilia B from India 19357501
Ghosh K 2009 Double mutations causing haemophilia B: a double whammy! 19236374
Giannelli F 1984 Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency) 6142992
Giannelli F 1991 Haemophilia B: database of point mutations and short additions and deletions--second edition 2041805
Giannelli F 1993 Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993 8392713
Giannelli F 1994 Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994 7937052
Giannelli F 1996 Haemophilia B (sixth edition): a database of point mutations and short additions and deletions 8594556
Gostout B 1993 Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians 8499919
Green PM 1988 Partial deletion by illegitimate recombination of the factor IX gene in a haemophilia B family with two inhibitor patients 3398774
Green PM 1989 Molecular pathology of haemophilia B 2743975
Green PM 1990 The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots 1972560
Green PM 1991 Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity 1873221
Green PM 1992 Haplotype analysis of identical factor IX mutants using PCR 1615486
Green PM 1993 Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX 8318985
Grunebaum L 1984 Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene 6325506
Hall AJ 1994 A single base pair deletion in the promoter region of the factor IX gene is associated with haemophilia B 7740444
Hamaguchi M 1991 Three distinct point mutations in the factor IX gene of three Japanese CRM+ hemophilia B patients (factor IX BMNagoya 2, factor IX Nagoya 3 and 4) 1871712
Handford PA 1991 Key residues involved in calcium-binding motifs in EGF-like domains 2030732
Haris II 1994 Mutation detection by fluorescent chemical cleavage: application to hemophilia B 8038695
Hase S 1988 A new trisaccharide sugar chain linked to a serine residue in bovine blood coagulation factors VII and IX 3149637
Hassan HJ 1985 Hemophilia B with inhibitor: molecular analysis of the subtotal deletion of the factor IX gene 2992643
Hay CW 1986 Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status 3008893
Heit JA 1998 Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern 9600455
Heit JA 1999 Haemophilia B Brandenberg-type promoter mutation 10215951
Hirosawa S 1990 Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden 2352926
Hougie C 1967 Haemophilia Bm: a new type of factor-IX deficiency 4163943
Hrachovinova I 1992 [Detection of carriers of hemophilia B] 1288882
Huang MN 1989 Molecular defect in factor IXHilo, a hemophilia Bm variant: Arg----Gln at the carboxyterminal cleavage site of the activation peptide 2563663
Ivaskevicius V 2001 Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data 11298607
Jacobson DP 1993 Characterization of the patterns of polymorphism in a 'cryptic repeat' reveals a novel type of hypervariable sequence 8328460
Jagadeeswaran P 1984 Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment 6089357
Jaloma-Cruz AR 2000 Nine independent F9 mutations in the Mexican hemophilia B population: nonrandom recurrences of point mutation events in the human germline 10612837
Jayandharan G 2003 Identification of factor IX gene defects using a multiplex PCR and CSGE strategy-a first report. 12941051
Jayandharan G 2005 Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India 16270648
Jayandharan G 2005 Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val). 15842381
Jayandharan GR 2009 Polymorphism in factor VII gene modifies phenotype of severe haemophilia 19686262
Jenkins PV 2008 Mutation analysis of haemophilia B in the Irish population: increased prevalence caused by founder effect 18479429
Johnsen JM 2017 Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. 29296726
Kamiya T 1995 Retrospective study of inhibitor formation in Japanese hemophiliacs 8589362
Kao CY 2011 Characterisation of factor IX with a glycine-to-valine missense mutation at residue 190 in a patient with severe haemophilia B. 21301787
Ketterling RP 1991A T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection 1864609
Ketterling RP 1991B Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States 1916816
Ketterling RP 1993A Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation 8434583
Ketterling RP 1993B Deletions with inversions: report of a mutation and review of the literature 8477264
Ketterling RP 1994 Microdeletions in the factor IX gene: three recurrences associated with a quasipalindromic sequence 8162024
Ketterling RP 1994A The rates and patterns of deletions in the human factor IX gene 8304338
Ketterling RP 1994B The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene 8178822
Ketterling RP 1995 Two novel factor IX promoter mutations: incremental progress towards 'saturation in vivo mutagenesis' of a human promoter region 7633432
Ketterling RP 1999A Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations 10090477
Ketterling RP 1999B Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age 10647899
Knobloch O 1993 Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations 8365725
Knoll A 1996 Absence of somatic mosaicism in 17 families with hemophilia B: an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels 8882872
Koeberl DD 1989 Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG 2773937
Koeberl DD 1990A Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs 1969838
Koeberl DD 1990B Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene 2198809
Kuze K 1992 Title unavailable: J Nara Med Ass 43, 503-10 NA
Kwon MJ 2008 Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B 18624698
Li X 2000 Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations 11013449
Liddell MB 1989 Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145 2775660
Liddell MB 1989 Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw 2788012
Lin SW 1991 Characterization of genetic defects of hemophilia B of Chinese origin 1796396
Lin SW 1993 Genetic basis and carrier detection of hemophilia B of Chinese origin 8470048
Liu JZ 2000 The human factor IX gene as germline mutagen test: samples from Mainland China have the putatively endogenous pattern of mutation 10874302
Liu Q 1997 Inhibition of PCR amplification by a point mutation downstream of a primer 9043701
Ljung R 2001 Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity 11328285
Lozier JN 1990 Factor IX New London: substitution of proline for glutamine at position 50 causes severe hemophilia B 2306516
Ludwig M 1988 Haemophilia B+ with inhibitor 3388303
Ludwig M 1989 Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B 2741941
Ludwig M 1991 Prenatal diagnosis of haemophilia B by the use of polymerase chain reaction and direct sequencing 1674559
Ludwig M 1992A Parental origin of factor IX gene mutations, and their distribution in the gene 1346077
Ludwig M 1992B Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX 1346975
Maekawa H 1993 Molecular defect in factor IX Tokyo: substitution of valine-182 by alanine at position P2' in the second cleavage site by factor XIa resulting in impaired activation 8512923
Mahajan A 2004 Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene. 15590401
Mahajan A 2007 Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. 17397055
Martinez PA 1994 Direct carrier testing of haemophilia B by SSCP. 7913672
Matsushita T 1990 DNA sequence analysis of three inhibitor-positive hemophilia B patients without gross gene deletion: identification of four novel mutations in factor IX gene 2212858
Matthews RJ 1987 Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients 3029178
McGraw RA 1985 Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX 3857619
Meireles MR 2017 Molecular characterization of haemophilia B patients in southern Brazil. 28722788
Mikami S 1987 RFLPs of factor IX gene in Japanese haemophilia B families and gene deletion in two high-responder-inhibitor patients 2886685
Miller CH 2012 F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity. 22103590
Miyata T 1991 Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities 1958666
Miyata T 1994 Factor IX Bm Kiryu: a Val-313-to-Asp substitution in the catalytic domain results in loss of function due to a conformational change of the surface loop: evidence obtained by chimaeric modelling 7803238
Monroe DM 1989 Functional consequences of an arginine180 to glutamine mutation in factor IX Hilo 2713493
Montandon AJ 1989 Direct detection of point mutations by mismatch analysis: application to haemophilia B 2726481
Montandon AJ 1990A Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD) 2370049
Montandon AJ 1990B Clinically moderate to severe haemophilia B in a woman heterozygous for a nonsense mutation of the factor ix gene 2093364
Montejo JM 1999 Identification of twenty-one new mutations in the factor IX gene by SSCP analysis 10094553
Morgan GE 1995 The high frequency of the -6G-->A factor IX promoter mutation is the result both of a founder effect and recurrent mutation at a CpG dinucleotide 7734378
Morgan GE 1997 Further evidence for the importance of an androgen response element in the factor IX promoter. 9233568
Morita T 1984 Derivatives of blood coagulation factor IX contain a high affinity Ca2+-binding site that lacks gamma-carboxyglutamic acid 6425296
Mukherjee S 2004 Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients 15086324
Nawaz N 2008 Molecular Basis of Hemophilia B in Pakistan: Identification of Two Novel Mutations >>
Nguyen P 1995 A new case of severe hemophilia B Leyden, associated with a G to C mutation at position -6 of the factor IX promoter 7604825
Niazi G 2009 Novel human pathological mutations. Gene symbol: F9. Disease: Haemophilia B. 19693996
Niceta M 2006 A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B 17217158
Nielsen LR 1992 Screening for mutations in the gene encoding factor IX 1357229
Nielsen LR 1995 Detection of ten new mutations by screening the gene encoding factor IX of Danish hemophilia B patients 7482402
Nishimura H 1993 Factor IX Fukuoka. Substitution of ASN92 by His in the second epidermal growth factor-like domain results in defective interaction with factors VIIa/X. 8226948
Noyes CM 1983 Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145 6603618
Odom MW Five novel point mutations: two causing haemophilia B and three causing factor X deficiency 8028609
Oldenburg J 1997 Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy 9233593
Onay UV 2003 Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations 12588353
Pang CP 1990 Comparative sequence analysis of mammalian factor IX promoters 2251157
Picketts DJ 1992 An A to T transversion at position -5 of the factor IX promoter results in hemophilia B. 1733855
Poon MC 1987 Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes 2881949
Poon MC 1993 Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis 8320491
Poort SR 1989 A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel) 2762170
Poort SR 1989 A Dutch family with moderately severe hemophilia B (factor IXHeerde) has a missense mutation identical to that of factor IX London 2 2726505
Poort SR 1990 Two mutations of the factor IX gene including a donor splice consensus deletion and a point mutation in a Dutch patient with severe hemophilia B 2096489
Quadros L 2009 Novel mutations in factor IX gene from western India with reference to their phenotypic and haplotypic attributes. 19262239
Radic CP 2013 Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B 23093250
Rai HK 1996 A-793 G to A transition in the factor IX gene promoter is polymorphic in the Caucasian population 8603026
Rao KJ 1990 Human factor IXLincoln Park: a molecular characterization 1980717
Rees DJ 1985 Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene 4033760
Reijnen MJ 1993 Hemophilia B Leyden: substitution of thymine for guanine at position -21 results in a disruption of a hepatocyte nuclear factor 4 binding site in the factor IX promoter 8324220
Reitsma PH 1988 The putative factor IX gene promoter in hemophilia B Leyden 3416069
Reitsma PH 1989 Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype) 2917196
Roberts HR 1993 Molecular biology of hemophilia B 8236083
Rogaev EI 2009 Genotype Analysis Identifies the Cause of the Royal Disease 19815722
Rowley G 1995 Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage 8825645
Royle G 1991 Haemophilia B Leyden arising de novo by point mutation in the putative factor IX promoter region 2004020
Saad S 1994 First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres 8091381
Sakai T 1989 Blood clotting factor IX Kashihara: amino acid substitution of valine-182 by phenylalanine 2753873
Sarkar G 1991 Segments containing alternating purine and pyrimidine dinucleotides: patterns of polymorphism in humans and prevalence throughout phylogeny 2011533
Satoh C 1993 Variations among Japanese of the factor IX gene (F9) detected by PCR-denaturing gradient gel electrophoresis 8434584
Schach BG 1987 Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX 2821070
Seita I 2009 Double mutation, a 2-bp deletion and Val211Ile, in the blood coagulation factor IX gene of a patient with severe hemophilia B 19522246
Siguret V 1988 Identification of a CpG mutation in the coagulation factor-IX gene by analysis of amplified DNA sequences 3219291
Simioni P 2009 X-linked thrombophilia with a mutant factor IX (factor IX Padua). 19846852
Solera J 1991 Identification of a new haemophilia BM case produced by a mutation located at the carboxy terminal cleavage site of activation peptide 1651755
Solera J 1992 Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site 1346483
Sommer SS 1995 Germline mosaicism in a female who seemed to be a carrier by sequence analysis 8589701
Sommer SS 1996 The factor IX gene as a model for analysis of human germline mutations: an update 8875257
Spitzer SG 1988 Molecular defect in factor IXBm Lake Elsinore. Substitution of Ala390 by Val in the catalytic domain 3392024
Spitzer SG 1990 Factor IXHollywood: substitution of Pro55 by Ala in the first epidermal growth factor-like domain 2169923
Spitzer SG 1990 Replacement of isoleucine-397 by threonine in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but not L-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox brain prothrombin time and the mutation site in the variant proteins 2105717
Stowell KM 1993 Haemophilia B Liverpool: a new British family with mild haemophilia B associated with a -6 G to A mutation in the factor IX promoter 8251390
Suehiro K 1990 Blood clotting factor IX Nagoya 3: the molecular defect of zymogen activation caused by an arginine-145 to histidine substitution 2087690
Sugimoto M 1988 Blood clotting factor IX Niigata: substitution of alanine-390 by valine in the catalytic domain 3243764
Sugimoto M 1989 Factor IX Kawachinagano: impaired function of the Gla-domain caused by attached propeptide region due to substitution of arginine by glutamine at position -4 2757966
Tam BM 1991 Abstract 968 - not available: Thromb Haemost Vol 65 NA
Tanimoto M 1988 DNA analysis of seven patients with hemophilia B who have anti-factor IX antibodies: relationship to clinical manifestations and evidence that the abnormal gene was inherited 3411192
Tartary M 1993 Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis. 8217825
Tartary M 1993 Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis 8217825
Taylor SA 1988 A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred 2841226
Taylor SA 1990 A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm 2372509
Taylor SA 1991 Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency) 1986380
Taylor SA 1992 Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis. 1615485
Thompson AR 1990 Founder' effect in different families with haemophilia B mutation 1968152
Thompson AR 1991 Molecular biology of the hemophilias 1901173
Thompson AR 1992A Factor IX mutations: rapid, direct screening methods for 20 new families with hemophilia B 1579901
Thompson AR 1993 Characterization of factor IX defects in hemophilia B patients 8412791
Thompson AR 1994 Germ line origins of de novo mutations in hemophilia B families 8076948
Thorland EC 1995 Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects 8772212
Tsang TC 1988 A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism 3181127
Van De Water NS 1996 Factor IX gene mutations in haemophilia B: a New Zealand population-based study >>
Vidal F 2000 Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations 11122099
Vidaud D 1993 Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene 8069649
Vidaud M 1986 A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B 2875754
Vielhaber E 1993 A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B 8401514
Wadelius C 1988 Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies 2848757
Wallmark A 1985 Polymorphism of normal factor IX detected by mouse monoclonal antibodies 3873655
Wang NS 1990 Point mutations in four hemophilia B patients from China 2270538
Wang NS 1990 Factor IX Chongqing: a new mutation in the calcium-binding domain of factor IX resulting in severe hemophilia B 2339358
Ware J 1988 Genetic defect responsible for the dysfunctional protein: factor IXLong Beach 3401602
Ware J 1989 Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties 2738071
Weinmann AF 1998 Consequences of factor IX mutations in 26 families with haemophilia B 9450791
Wilton K 1997 XVI Congress of the International Society on Thrombosis and Haemostasis. Florence, Italy, June 6-12, 1997. Abstracts 9239224
Winship PR 1984 Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms 6096810
Winship PR 1986 Diagnosis of haemophilia B carriers using intragenic oligonucleotide probes 2873459
Winship PR 1989 Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers 2564457
Winship PR 1990 Haemophilia B caused by mutation of a potential thrombin cleavage site in factor IX 2320433
Winship PR 1991 Identification of haemophilia B patients with mutations in the two calcium binding domains of factor IX: importance of a beta-OH Asp 64----Asn change 1998585
Winship PR 1993 An MseI RFLP in the 5' flanking region of the factor IX gene: its use for haemophilia B carrier detection in Caucasian and Thai populations 8101718
Wulff K 1995 Twenty-five novel mutations of the factor IX gene in haemophilia B 8680410
Wulff K 1999 Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene 10698280
Wulff K 2000 Identification of a novel large F9 gene mutation-an insertion of an Alu repeated DNA element in exon e of the factor 9 gene. 10679958
Wulff K 2001 Greifswald Hemophilia B Study: book chapter - in Scharrer I, Schramm W (Ed.), 30th Hemophilia Symposium Hamburg 1999 Berlin / Heidelberg, Germany: Springer-Verlag published 2001
Yan J B 2005 The current feature of the study on human coagulation factor IX mutant 16257919
Yang Y 1994 Two-step selective formation of three disulfide bridges in the synthesis of the C-terminal epidermal growth factor-like domain in human blood coagulation factor IX 7987222
Yoshitake S 1985 Nucleotide sequence of the gene for human factor IX (antihemophilic factor B) 2994716
Yu T 2012 Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations. 22544209
Zhang M 1989 The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence -561. The BamHI/MSPI haplotypes in blacks and Caucasians 2567277


© Copyright 2010-2022, EAHAD. No part of this site may be copied or used in any way without permission. Hosted at MDSAS.