Article
[Genetic and prenatal diagnosis for a haemophilia A family with two novel mutations of F8 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2017
Li Tao, Hou Qiaofang, Liu Hongyan, Xiao Hai, Zhang Bo, Liu Shiling, Yang Yanli, Zhang Chaoyang, Ding Xuebing, Liao Shixiu
Abstract excerpt
OBJECTIVE: To conduct genetic diagnosis for a family affected with hamophilia A. METHODS: Potential mutations of the F8 gene were analyzed with PCR and Sanger sequencing. Carriers of the mutation were identified through linkage analysis using short tandem repeat (STR) markers. Suspected mutations were verified among 100 healthy controls to rule out genetic polymorphism. Prenatal diagnosis was provided based on...
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