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Factor VII central. A novel mutation in the catalytic domain that reduces tissue factor binding |
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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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Two novel mutations in severe factor VII deficiency |
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Characterization of the molecular defects of the FVII gene in factor VII deficiency |
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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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[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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Two novel mutations in the human coagulation factor VII promoter. |
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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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Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency |
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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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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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Asymptomatic factor VII deficiency in African Americans |
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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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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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Factor VII Shinjo: a dysfunctional factor VII variant homozygous for the substitution Gln for Arg at position 79 |
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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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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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Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation |
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