FVII Variant References
Publications listing F7 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 This database also contains unpublished variants curated in the same way as published variants.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 | |
|---|---|---|---|
| Ahmed RP | 2005 | First report of a FVII-deficient Indian patient carrying double heterozygous mutations in the FVII gene | 15792686 |
| Alshinawi C | 1998 | Two new missense mutations (P134T and A244V) in the coagulation factor VII gene | 9452082 |
| Arbini AA | 1994 | Molecular analysis of Polish patients with factor VII deficiency | 7919338 |
| Arbini AA | 1996 | A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule | 8652821 |
| Arbini AA | 1997 | Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter | 8978290 |
| Ariffin H | 2003 | Prenatal exclusion of severe factor VII deficiency | 12759632 |
| Au WY | 2000 | Two novel factor VII gene mutations in a Chinese family with factor VII deficiency | 11091194 |
| Bernardi F | 1993 | Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region | 8244334 |
| Bernardi F | 1994 | Molecular defects in CRM factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII (1994a) | 8043443 |
| Bernardi F | 1994 | Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro) (1994b) | 7981691 |
| Bernardi F | 1996 | Mutation pattern in clinically asymptomatic coagulation factor VII deficiency | 8844208 |
| Bharadwaj D | 1996 | Factor VII central. A novel mutation in the catalytic domain that reduces tissue factor binding, impairs activation by factor Xa, and abolishes amidolytic and coagulant activity | 8940045 |
| Bolton-Maggs PH | 2007 | The importance of tissue factor source in the management of Factor VII deficiency | 17200783 |
| Borensztajn K | 2002 | Characterization of two novel splice site mutations in human factor VII gene causing severe plasma factor VII deficiency and bleeding diathesis | 11918550 |
| Borensztajn K | 2005 | Inherited factor VII deficiency: identification of two novel mutations (A191V and T239P) in the catalytic domain | 15907525 |
| Borhany M | 2013 | Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency | 23731332 |
| Branchini A | 2012 | Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency | 22180436 |
| Carew JA | 1998 | Severe factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter | 9716591 |
| Cavallari N | 2012 | Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant | 22426302 |
| Chafa O | 2004 | Homozygous nonsense mutation (Cys72-->stop) in the human F7 gene: a not life-threatening mutation despite the absence of circulating factor VII | 15624284 |
| Chaing S | 1994 | Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor | 8204879 |
| Chu H | 2002 | [Molecular analysis of two pedigrees with hereditary F VII deficiency] | 12015065 |
| Chu HY | 2003 | [Analysis of an inherited FVII deficiency pedigree caused by homozygosity of Thr359Met] | 12697124 |
| Cutler JA | 2005 | The significance of published polymorphisms in 14 cases of mild factor VII deficiency | 15741795 |
| D'Andrea G | 2004 | Molecular characterization of a factor VII deficient patient supports the importance of the second epidermal growth factor-like domain | 15339682 |
| Davidson SJ | 2010 | Anticoagulation of a patient with hypertrophic cardiomyopathy and factor VII deficiency | 20885134 |
| Ding QL | 2003 | [Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp] | 12903033 |
| Ding Q | 2005 | Novel aberrant splicings caused by a splice site mutation (IVS1a+5g>a) in F7 gene | 15968391 |
| Elmahmoudi H | 2012 | Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia | 22873696 |
| Etro D | 2003 | The Gly331Ser mutation in factor VII in Europe and the Middle East | 14688004 |
| Fromovich-Amit Y | 2004 | Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients | 15456489 |
| Fromovich-Amit Y | 2005 | Of four mutations in the factor VII gene in Tunisian patients, one novel mutation (Ser339Phe) in three unrelated families abrogates factor X activation | 15970722 |
| Furlan Freguia C | 2004 | Characterization of mild coagulation factor VII deficiency: activity and clearance of the Arg315Trp and Arg315Lys variants in the Cys310-Cys329 loop (c170s) | 15590402 |
| Giansily-Blaizot M | 2001 | Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis | 11225604 |
| Giansily-Blaizot M | 2001 | Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency | 11313743 |
| Giansily-Blaizot M | 2003 | Two novel cases of cerebral haemorrhages at the neonatal period associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop) | 12632035 |
| Giansily-Blaizot M | 2007 | Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency | 17614823 |
| Giansily-Blaizot M | 2012 | Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site. | 22628013 |
| Gomez K | 2004 | Two novel mutations in severe factor VII deficiency | 15198740 |
| Hennewig U | 2006 | Long-term FVII substitution in a preterm infant with severe gastrointestinal bleeding and FVII deficiency due to a homozygous donor splice mutation IVS4+1G-->A | 16651241 |
| Herrmann FH | 1997 | Characterization of the molecular defects of the FVII gene in factor VII deficiency | 9239224 |
| Herrmann FH | 2000 | Molecular biology and clinical manifestation of hereditary factor VII deficiency | 11092214 |
| Herrmann FH | 2009 | Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene | 18976247 |
| Hewitt J | 2005 | Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion | 15667541 |
| Hunault M | 1999 | Characterization of two naturally occurring mutations in the second epidermal growth factor-like domain of factor VII | 9949166 |
| Hunault M | 1999 | Mechanism underlying factor VII deficiency in Jewish populations with the Ala244Val mutation | 10554827 |
| James HL | 1993 | The dysfunction of coagulation factor VII Padua results from substitution of arginine-304 by glutamine (1993a) | 8448207 |
| James HL | 1993 | Factor-VII Little-Rock is dysfunctional due to an Arg304 to Gln substitution (1993b) | 8219212 |
| James HL | 1993 | Identification of a variant Factor VII Verona as due to another occurrence of a specific gene hot-spot mutation (1993c) | 8102818 |
| James HL | 1997 | Factor VII C329R. A variant with an ablated disulphide bond and probable deficient substrate binding | 9239224 |
| Jayandharan GR | 2007 | Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients | 17606459 |
| Jiang MH | 2011 | [Genotype and phenotype analysis of congenital coagulator factor VII deficiency in four Chinese pedigrees] | 21535950 |
| Jiang M | 2011 | A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency | 21372693 |
| Jin Y | 2012 | [Molecular genetics and clinical features of nine patients with inherited coagulation factor VII deficiency] | 22875495 |
| Katsumi A | 2000 | Severe factor VII deficiency caused by a novel mutation His348 to Gln in the catalytic domain | 10739380 |
| Kavlie A | 1997 | Characterization of mutations in the human factor VII gene: Modelling and expression. | 9239224 |
| Kavlie A | 1998 | Characterization of a factor VII molecule carrying a mutation in the second epidermal growth factor-like domain | 9657438 |
| Kavlie A | 2003 | Two novel mutations in the human coagulation factor VII promoter. | 12888866 |
| Kavlie A | 2004 | A novel gene mutation in the 60s loop of human coagulation factor VII -inhibition of interdomain crosstalk | 14691565 |
| Kogiso N | 2011 | Factor VII Deficiency due to Compound Heterozygosity for Leu-48Pro Mutation and a Novel Pro260Leu Mutation | 21441234 |
| Kuppuswamy MN | 1993 | Molecular characterization of human factor-VII Kansas (gk704)- substitution of Gln100 by Arg in one allele and of Arg304 by Gln possibly in the other allele. | 8102818 |
| Kwon MJ | 2011 | Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea | 21206266 |
| Landau D | 2009 | Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation | 19432927 |
| Lee SM | 2008 | Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation | 18180623 |
| Lee JH | 2009 | A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a newborn baby | 19786945 |
| Marlar RA | 1982 | An alternative extrinsic pathway of human blood coagulation | 7139124 |
| Leonard BJ | 1998 | Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain | 9414278 |
| Li M | 2013 | Double heterozygous mutations Gln100Leu and His348Gln of the F7 gene in a patient with factor VII deficiency | 23358202 |
| Li R | 2015 | [Analysis of the gene mutation in an inherited FVII deficiency patient] | 26178358 |
| Liu H | 2015 | Phenotypic and genotypic characterization of four factor VII deficiency patients from central China | 25767893 |
| Marchetti G | 1992 | Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7) | 1634227 |
| Marchetti G | 1993 | A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene | 8364544 |
| Mariani G | 2003 | Thrombosis in inherited factor VII deficiency | 14521598 |
| Marty S | 2008 | The paradoxical association between inherited factor VII deficiency and venous thrombosis | 18282149 |
| Matsushita T | 1994 | Impaired human tissue factor mediated activity in blood clotting factor VII Nagoya (Arg304->Trp). Evidence that a region in the catalytic domain of factor VII is important for the association with tissue factor | 8125953 |
| McVey JH | 1998 | Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency | 9680360 |
| Menegatti M | 2004 | A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency | 15307115 |
| Millar DS | 1992 | Prenatal exclusion of severe factor VII deficiency by DNA sequencing [letter] | 1350022 |
| Millar DS | 2000 | Molecular analysis of the genotype-phenotype relationship in factor VII deficiency | 11129332 |
| Mota L | 2009 | Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India | 19751712 |
| Mourey G | 2014 | A Haut-Doubs FVII variant depending on species-derived-thromboplastin reagent (F7:p.Arg337His) | 24805822 |
| Nagaizumi K | 2002 | Two double heterozygous mutations in the F7 gene show different manifestations | 12472587 |
| O'Brien DP | 1991 | Purification and characterization of factor VII304-Gln: a variant molecule with reduced activity isolated from a clinically unaffected male | 2070047 |
| Ohiwa M | 1994 | Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg(247) (CGC) in the catalytic domain | 7974346 |
| Okamoto M | 2009 | Factor VII deficiency: a double heterozygote of an Arg402Stop with a deletion of the C-terminal five amino acids and a Thr359Met | 19141116 |
| Ozawa T | 1997 | Factor VII Toyama (Thr 359 Met): a homozygous missense mutation causing severe type I deficiency | 9308740 |
| Ozawa T | 1998 | Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency | 9576180 |
| Pavlova A | 2015 | Congenital combined deficiency of coagulation factors VII and X - different genetic mechanisms | 25582404 |
| Peyvandi F | 1999 | A post-translational modification of Factor VII protein caused by a homozygous 15bp insertion mutation in the human FVII gene. | 10660426 |
| Peyvandi F | 2000 | Homozygous 2bp deletion in the human factor VII gene: a non-lethal mutation that is associated with a complete absence of circulating factor VII (2000a) | 11057862 |
| Peyvandi F | 2000 | Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency (2000b) | 10959697 |
| Peyvandi F | 2001 | Abnormal secretion and function of recombinant human factor VII as the result of modification to a calcium binding site caused by a 15-base pair insertion in the F7 gene | 11159523 |
| Peyvandi F | 2002 | Two naturally occurring mutations on FVII gene (S363I-W364C) altering intrinsic catalytic activity | 12428089 |
| Pinotti M | 1998 | Molecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene | 9716592 |
| Pinotti M | 2002 | Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser) | 11830508 |
| Pollak ES | 2006 | Asymptomatic factor VII deficiency in African Americans | 16753603 |
| Pruthi RK | 2007 | Molecular analysis in a patient with severe factor VII deficiency and an inhibitor: report of a novel mutation (S103G) | 17692102 |
| Quelin F | 2008 | Characterization of combined factor VII and factor XI deficiencies | 18248411 |
| Rizzotto L | 2006 | Intracellular evaluation of ER targeting elucidates a mild form of inherited coagulation deficiency | 17088945 |
| Rodrigues DN | 2003 | Prevalence of factor VII deficiency and molecular characterization of the F7 gene in Brazilian patients | 12695753 |
| Sabater-Lleal M | 2003 | Complexity of the genetic contribution to factor VII deficiency in two Spanish families: clinical and biological implications | 12935978 |
| Sabharwal AK | 1992 | Factor-VII deficiency (FVII Richmond, R304Q mutant) associated with thrombosis | 1394946 |
| Salcioglu Z | 2012 | Factor VII deficiency: a single-center experience | 22327826 |
| Sekiya A | 2012 | [Significant decrease in factor VII activity by tissue thromboplastin derived from rabbit brain in a patient with congenital factor VII deficiency (FVII Padua)] | 22499055 |
| Shen MC | 2001 | Novel mutations in the Factor VII gene of Taiwanese Factor VII-deficient patients | 11260055 |
| Shurafa MS | 1993 | The molecular defect in factor VII (Detroit) is due to substitution of Arg(304) by Gln | 8094361 |
| Suto M | 2000 | Factor VII R110C: a novel missense mutation (Arg110Cys) in the second epidermal growth factor-like domain causing factor VII deficiency in members of a Japanese family | 10937801 |
| Suzuki K | 2013 | Compound heterozygous mutations (p.Leu13Pro and p.Tyr294*) associated with factor VII deficiency cause impaired secretion through ineffective translocation and extensive intracellular degradation of factor VII | 23141848 |
| Takamiya O | 1993 | Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII | 8242057 |
| Takamiya O | 1995 | Factor VII Shinjo: a dysfunctional factor VII variant homozygous for the substitution Gln for Arg at position 79 | 7607584 |
| Takamiya O | 2001 | Severe factor VII deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211-->Term) | 11529858 |
| Takamiya O | 2002 | Human factor VII deficiency caused by S339C mutation located adjacent to the specificity pocket of the catalytic domain | 12181027 |
| Takamiya O | 2004 | A patient homozygous for a Gly354Cys mutation in factor VII that results in severely impaired secretion of the molecule, but not complete deficiency | 14717781 |
| Takamiya O | 2005 | Molecular mechanism of dysfunctional factor VII associated with the homozygous missense mutation 331Gly to Ser | 15735789 |
| Tamary H | 1996 | Ala244Val is a common, probably ancient mutation causing Factor VII deficiency in Moroccan and Iranian Jews | 8883260 |
| Tamary H | 2000 | Molecular characterization of four novel mutations causing factor VII deficiency | 11920218 |
| Tanaka R | 2010 | Impaired secretion of carboxyl-terminal truncated factor VII due to an F7 nonsense mutation associated with FVII deficiency | 19822353 |
| Tidd T | 1999 | Two novel mutations identified in the human coagulant protein factor VII gene. | 10660426 |
| Toso R | 2003 | Factor VII mutant V154G models a zymogen-like form of factor VIIa | 12358603 |
| Traynis I | 2006 | First molecular characterization of a patient with combined factor V and factor VII deficiency | 16732384 |
| Tu CQ | 2006 | [Novel double heterozygous mutations on Met306Val and Thr181Asn related to a hereditary coagulation factor VII deficiency] | 16620721 |
| Wang MS | 2011 | [Gene analysis of a combined inherited factor VII and factor X deficiency pedigree] | 22339961 |
| Woo HI | 2012 | Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes | 22576285 |
| Wu Y | 2000 | [Genetic analysis of hereditary factor VII deficiency from a Chinese pedigree] | 11236630 |
| Wulff K | 2000 | Twenty two novel mutations of the factor VII gene in factor VII deficiency | 10862079 |
| Yu T | 2009 | Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree | 19601987 |
| Zhang T | 2013 | A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a pedigree: a description of two cases | 23672839 |
| Zheng DQ | 1996 | Factor VII G331D: a variant molecule involving replacement of a residue in the substrate-binding region of the catalytic domain | 8845469 |
| Zhidong W | 2007 | Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation | 17849063 |