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 This database also contains unpublished variants curated in the same way as published variants.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 |
|
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 |
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