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 |
Double mutations causing haemophilia B: a double whammy! |
19236374
|
|
Ghosh K |
2009 |
Spectrum of factor IX gene mutations causing haemophilia B from India |
19357501
|
|
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 |
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 G |
2005 |
Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India |
16270648
|
|
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 |
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A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred |
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Founder' effect in different families with haemophilia B mutation |
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A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism |
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Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations |
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A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B |
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A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B |
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Polymorphism of normal factor IX detected by mouse monoclonal antibodies |
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Point mutations in four hemophilia B patients from China |
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Factor IX Chongqing: a new mutation in the calcium-binding domain of factor IX resulting in severe hemophilia B |
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Genetic defect responsible for the dysfunctional protein: factor IXLong Beach |
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Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties |
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Consequences of factor IX mutations in 26 families with haemophilia B |
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XVI Congress of the International Society on Thrombosis and Haemostasis. Florence, Italy, June 6-12, 1997. Abstracts |
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Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms |
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Winship PR |
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Diagnosis of haemophilia B carriers using intragenic oligonucleotide probes |
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Haemophilia B caused by mutation of a potential thrombin cleavage site in factor IX |
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Winship PR |
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Twenty-five novel mutations of the factor IX gene in haemophilia B |
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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 |
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Nucleotide sequence of the gene for human factor IX (antihemophilic factor B) |
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Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations. |
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