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[Analysis of a pedigree affected with congenital hypofibrinogenemia due to heterozygous Ser313Ile mutation of fibrinogen γ chain gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2018

Zhu Liqing, Zhao Misheng, Cheng Xiaoli, Yu Dandan, Li Xiaolong, Xu Fei, Wang Jinguo, Wang Mingshan

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with congenital hypofibrinogenamia. METHODS: Peripheral blood samples were collected from 9 members from the pedigree. Routine coagulation tests including activated partial thromboplastin time (APTT), thrombin time (TT), the prothrombin time (PT) were carried out. The activity of fibrinogen (Fg: C) was measured using Clauss method, and...

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PMID: 29652987
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.007

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