Article
[Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2003
Ding Qiu-lan, Wang Hong-li, Wang Xue-feng, Wang Ming-shan, Fu Qi-hua, Wu Wen-man, Hu Yi-qun, Wang Zhen-yi
Abstract excerpt
OBJECTIVE: To investigate the genotypes of mutations of an inherited coagulation factor VII(F VII) deficiency pedigree. METHODS: The diagnosis was validated by coagulant parameters. F VII gene mutations were analysed in the proband and her family members by DNA direct sequencing. The PCR fragments were cleaved by the Msp I restriction enzyme to confirm the mutations detected by sequencing was performed in this...
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