Article
[Analysis of an hereditary coagulation factor XII deficiency in a consanguineous pedigree].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2011
Zhang Yang, Xie Hai-xiao, Wang Ming-shan, Jin Yan-hui, Xie Yao-sheng, Zheng Fang-xiu
Abstract excerpt
OBJECTIVE: To analyze genetic mutation and explore its molecular pathogenesis for an hereditary coagulation factor XII(F XII) deficiency in a pedigree featuring consanguineous marriage. METHODS: Activated partial thromboplastin time (APTT), F XII procoagulant activity (F XII:C), F XII antigen (F XII:Ag) and other coagulant parameters were assayed. For the proband and his family members, exons 1-4, introns...
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