Article
A novel fibrinogen mutation (γ Thr277Arg) causes hereditary hypofibrinogenemia in a Chinese family.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Sept 2013
Zhu Liqing, Wang Mingshan, Xie Haixiao, Jin Yanhui, Yang Lihong, Xu Pengfei
Abstract excerpt
Congenital hypofibrinogenemia is a rare disorder caused by heterozygous mutations in one of the three fibrinogen genes--fibrinogen α-chain (FGA), fibrinogen β-chain (FGB) and fibrinogen γ-chain (FGG)--which code for the Aα, Bβ and γ chains, respectively. In this study, we identified a genetic defect in the FGG underlying the hypofibrinogenemia. The proposita had a prolonged blood clotting time (thrombin time...
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