Article
Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2011
Kwon Min-Jung, Yoo Ki-Young, Lee Ki-O, Kim Sun-Hee, Kim Hee-Jin
Abstract excerpt
Coagulation factor VII (FVII) deficiency is a rare hereditary coagulopathy caused by mutations in the F7 gene. The aims of this study were to characterize the molecular defect of F7 in Korean patients with FVII deficiency and to find genotype-phenotype correlations. Study individuals consisted of 14 unrelated Korean patients with FVII deficiency with residual FVII activities ranging from 1 to 34%. To identify...
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