Article
[Severe hereditary coagulation factor V deficiency caused by two novel heterozygous mutations].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Mar 2005
Zhou Rong-fu, Fu Qi-hua, Xu Xiu-cai, Wang Wen-bin, Wu Wen-man, Ding Qiu-lan, Xie Shuang, Zhai Zhi-min, Hu Yi-qun, Wang Xue-feng, Wu Jing-sheng, Wang Hong-li
Abstract excerpt
OBJECTIVE: To identify gene mutations of a pedigree with inherited factor V (FV) deficiency. METHODS: The activated partial thromboplastin time (APTT), prothrombin time (PT), FV activity (FV:C) and FV antigen (FV:Ag) tests were performed for phenotypic diagnosis. The genomic DNA was extracted from the peripheral blood of the proband and all the 25 exons and their flanks of FV gene were amplified by polymerase...
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