Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiency.
Inherited factor VIl (FVII) deficiency is a rare autosomal recessive coagulation disorder characterized by a wide genet-ic heterogeneity and a poor relationship between FVII activity (FVII:C) levels and severity of the hemorrhagic diathesis. Given both the rarity and the heterogeneity of this disorder,genotype-phenotype relationships are difficult to clarify. The analysis of three FVII-deficient patients enabled us to offer some explanations.
Giansily-Blaizot
Muriel
M
Aguilar-Martinez
Patricia
P
Schved
Jean-François
JF
D005167:Factor VII / Q000235:genetics; D005168:Factor VII Deficiency / Q000235:genetics*; D005192:Family Health; D005260:Female; D018740:Genetic Heterogeneity; D006470:Hemorrhage / Q000209:etiology / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype
D005167:Factor VII