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| Bernardi F |
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Factor VII central. A novel mutation in the catalytic domain that reduces tissue factor binding |
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Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant |
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Homozygous nonsense mutation (Cys72-->stop) in the human F7 gene: a not life-threatening mutation despite the absence of circulating factor VII |
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[Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp] |
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Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia |
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Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients |
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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) |
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Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency |
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Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site. |
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Two novel mutations in severe factor VII deficiency |
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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 |
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Characterization of the molecular defects of the FVII gene in factor VII deficiency |
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| Herrmann FH |
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Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion |
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| Hunault M |
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Characterization of two naturally occurring mutations in the second epidermal growth factor-like domain of factor VII |
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| Hunault M |
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Mechanism underlying factor VII deficiency in Jewish populations with the Ala244Val mutation |
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| James HL |
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The dysfunction of coagulation factor VII Padua results from substitution of arginine-304 by glutamine (1993a) |
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| James HL |
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Factor-VII Little-Rock is dysfunctional due to an Arg304 to Gln substitution (1993b) |
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Identification of a variant Factor VII Verona as due to another occurrence of a specific gene hot-spot mutation (1993c) |
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Factor VII C329R: a variant with a disrupted disulfide bond in the catalytic domain |
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Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients |
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[Genotype and phenotype analysis of congenital coagulator factor VII deficiency in four Chinese pedigrees] |
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A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency |
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Characterization of mutations in the human factor VII gene: Modelling and expression. |
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Two novel mutations in the human coagulation factor VII promoter. |
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A novel gene mutation in the 60s loop of human coagulation factor VII -inhibition of interdomain crosstalk |
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Factor VII Deficiency due to Compound Heterozygosity for Leu-48Pro Mutation and a Novel Pro260Leu Mutation |
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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. |
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Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea |
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Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation |
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Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation |
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A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a newborn baby |
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Double heterozygous mutations Gln100Leu and His348Gln of the F7 gene in a patient with factor VII deficiency |
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Phenotypic and genotypic characterization of four factor VII deficiency patients from central China |
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Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7) |
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A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene |
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Thrombosis in inherited factor VII deficiency |
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The paradoxical association between inherited factor VII deficiency and venous thrombosis |
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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 |
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Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency |
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A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency |
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Two double heterozygous mutations in the F7 gene show different manifestations |
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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 |
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Factor VII Toyama (Thr 359 Met): a homozygous missense mutation causing severe type I deficiency |
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Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency |
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Congenital combined deficiency of coagulation factors VII and X - different genetic mechanisms |
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A post-translational modification of Factor VII protein caused by a homozygous 15bp insertion mutation in the human FVII gene. |
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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) |
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Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency (2000b) |
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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 |
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Two naturally occurring mutations on FVII gene (S363I-W364C) altering intrinsic catalytic activity |
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Molecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene |
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Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser) |
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Asymptomatic factor VII deficiency in African Americans |
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Molecular analysis in a patient with severe factor VII deficiency and an inhibitor: report of a novel mutation (S103G) |
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Characterization of combined factor VII and factor XI deficiencies |
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Intracellular evaluation of ER targeting elucidates a mild form of inherited coagulation deficiency |
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Prevalence of factor VII deficiency and molecular characterization of the F7 gene in Brazilian patients |
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Complexity of the genetic contribution to factor VII deficiency in two Spanish families: clinical and biological implications |
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Factor VII deficiency: a single-center experience |
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[Significant decrease in factor VII activity by tissue thromboplastin derived from rabbit brain in a patient with congenital factor VII deficiency (FVII Padua)] |
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Novel mutations in the Factor VII gene of Taiwanese Factor VII-deficient patients |
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The molecular defect in factor VII (Detroit) is due to substitution of Arg(304) by Gln |
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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 |
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Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII |
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Factor VII Shinjo: a dysfunctional factor VII variant homozygous for the substitution Gln for Arg at position 79 |
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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) |
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Human factor VII deficiency caused by S339C mutation located adjacent to the specificity pocket of the catalytic domain |
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A patient homozygous for a Gly354Cys mutation in factor VII that results in severely impaired secretion of the molecule, but not complete deficiency |
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Molecular mechanism of dysfunctional factor VII associated with the homozygous missense mutation 331Gly to Ser |
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Ala244Val is a common |
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Molecular characterization of four novel mutations causing factor VII deficiency |
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Impaired secretion of carboxyl-terminal truncated factor VII due to an F7 nonsense mutation associated with FVII deficiency |
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Two novel mutations identified in the human coagulant protein factor VII gene. |
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Factor VII mutant V154G models a zymogen-like form of factor VIIa |
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First molecular characterization of a patient with combined factor V and factor VII deficiency |
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[Novel double heterozygous mutations on Met306Val and Thr181Asn related to a hereditary coagulation factor VII deficiency] |
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[Gene analysis of a combined inherited factor VII and factor X deficiency pedigree] |
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Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes |
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Twenty two novel mutations of the factor VII gene in factor VII deficiency |
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Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree |
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A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a pedigree: a description of two cases |
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Factor VII G331D: a variant molecule involving replacement of a residue in the substrate-binding region of the catalytic domain |
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Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation |
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