Article
Unique de-novo mutation of fibrinogen gene in a Chinese girl with hypofibrinogenemia.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 2014
Wang Yingyu, Zhu Liqing, Hao Xiuping, Xie Yaosheng, Jin Yanhui, Wang Mingshan
Abstract excerpt
Hypofibrinogenemia is characterized by low plasma fibrinogen concentrations (<1.5 g/l). It is usually caused by heterozygous mutations in one of the three fibrinogen genes. To the best of our knowledge, the vast majority of these mutations have been proven to be inherited from a parent. We studied here a Chinese family in which the proband had low functional and antigen fibrinogen levels, 0.77 and 0.90 g/l,...
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