Article
[Analysis of molecular pathogenesis and clinical phenotypes in 10 probands with inherited fibrinogen deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2015
Zhu Liqing, Zhao Misheng, Lin Jie, Wang Yingyu, Xie Haixiao, Xie Yaosheng, Ding Hongxiang, Wang Mingshan
Abstract excerpt
OBJECTIVE: To explore the molecular pathogenesis and clinical phenotypes in 10 probands with inherited fibrinogen (Fg) deficiency. METHODS: The diagnosis of hereditary Fg deficiency was validated by prothrombin time (PT), thrombin time (TT), Fg activity (Fg:C) and Fg antigen (Fg:Ag) in plasma. All of the exons and their flanking sequences of the Fg gene were analyzed by direct sequencing. Detected mutations were...
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