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[Analysis of Phenotype and Genotype of A Family with Hereditary Coagulation Factor Ⅴ Deficiency Caused by A Compound Heterozygous Mutation].

Zhongguo shi yan xue ye xue za zhi - 1 Dec 2020

Kong Rong-Xia, Xie Yao-Sheng, Xie Hai-Xiao, Luo Sha-Sha, Wang Ming-Shan

Abstract excerpt

OBJECTIVE: To analyze the molecular pathogenesis by analysis of phenotype and gene mutation in families with hereditary coagulation factor V (FⅤ) defect caused by complex heterozygous mutation. METHODS: Plasma pro-thrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), FⅤ procoagulant activity (FⅤ∶C), FⅤ antigen (FⅤ∶Ag), and other related coagulation indexes were detected in the...

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PMID: 33283738
DOI: 10.19746/j.cnki.issn.1009-2137.2020.06.039

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