Article
Novel deleterious mutation in the F12 gene in a Korean family with severe coagulation factor XII deficiency.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 2010
Kim Hee-Jung, Kim Hee-Jin, Kwon Eui-Hoon, Lee Ki-O, Park In-Ae, Kim Sun-Hee
Abstract excerpt
Coagulation factor XII (FXII) is involved in the initiation of blood coagulation, fibrinolysis, complement systems, and bradykinin generation. Hereditary deficiency of FXII is caused by mutations in the F12 gene. In this report, we describe a Korean family with severe FXII deficiency from F12 mutations. The proband was a 46-year-old woman and was shown to have a markedly prolonged activated partial thromboplastin...
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