[Clinical and genotypic analysis of two Chinese pedigrees affected with hereditary coagulable factor VII deficiency].

Fanfan Li, Jie Liu, Qianying Zhu,Chenfang Shen,Kuangyi Shu, Xiao Yang,Wei Yang, Suzhen Lin,Bi Chen,Minghua Jiang

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2019）

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摘要

Two novel heterozygous missense variants of the F7 gene [c.1371G>T(p.Arg439Ser) and c.278G>T(p.Arg75Met)] probably account for the decrease of factor VII in the two pedigrees.

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