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[Phenotype and genotype analysis for a consanguineous pedigree with combined coagulation factor VII and X deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2014

Jin Yanhui, Wang Mingshan, Wang Yingyu, Yang Xiaoli, Yang Lihong, Xie Yaosheng, Xie Haixiao, Zhu Liqing, Yu Fangyou

Abstract excerpt

OBJECTIVE: To identify potential mutations and explore the molecular mechanism underlying combined inherited coagulation factors VII(FVII) and X(FX) deficiency for a family featuring consanguineous marriage between maternal cousins. METHODS: Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FVII activity (FVII:C), FX activity (FX:C), FVII antigen (FVII:Ag), FX antigen (FX:Ag) and...

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PMID: 24510554
DOI: 10.3760/cma.j.issn.1003-9406.2014.01.004

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