Article
Novel mutations (γTrp208Leu and γLys232Thr) leading to congenital hypofibrinogenemia in two unrelated Chinese families.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Dec 2014
Zhu Liqing, Wang Yingyu, Zhao Misheng, Hao Xiuping, Xie Haixiao, Xie Yaosheng, Wang Mingshan, Ding Hongxiang
Abstract excerpt
Congenital hypofibrinogenemia is a rare disorder caused by heterozygous mutations in the fibrinogen genes. The aim of this study was to elucidate the molecular defects in two unrelated families with hypofibrinogenemia. The proband from family A was a 19-year-old Chinese boy who was suffering from...
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