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[Identification of a novel mutation of factor XII gene in a family with coagulation FXII deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2013

Xie Haixiao, Lv Meiyan, Yang Xiaoli, Zhu Liqing, Yang Lihong, Jin Yanhui, Wang Mingshan

Abstract excerpt

OBJECTIVE: To analyze genetic mutation and molecular pathogenesis in a family affected with inherited coagulation factor XII(FXII) deficiency. METHODS: Activated partial thromboplastin time (APTT), FXII procoagulant activity (FXII:C), FXII antigen (FXII:Ag) and other coagulants were measured. For affected members of the family, exons 1-14 and flanking intronic regions of the FXII gene were amplified with...

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PMID: 23744322
DOI: 10.3760/cma.j.issn.1003-9406.2013.03.014

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