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[Two novel factor V gene mutations associated with congenital coagulation factor V deficiency, study of one pedigree].

Zhonghua yi xue za zhi - 25 Feb 2003

Fu Qi-hua, Wang Hong-li, Wang Ming-shan, Ding Qiu-lan, Wu Wen-man, Hu Yi-qun, Wang Xue-feng, Wang Zhen-yi

Abstract excerpt

OBJECTIVE: To discover the 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 test were adopted for phenotype diagnosis. The genomic DNA was extracted from the peripheral blood of the 16-year-old propositus, female. All the 25 exons and their flanks in the FV gene of the...

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PMID: 12812650

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