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[Identification of a novel variant of F5 gene in a consanguineous pedigree affected with inherited coagulation factor V deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2020

Liu Mohan, Yang Yuan, Liu Yunqiang

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a consanguineous pedigree affected with inherited coagulation factor V deficiency. METHODS: Genomic DNA was extracted from peripheral blood samples from the pedigree and subjected to next generation sequencing for screening variants of the F5 gene. Suspected pathogenic variant was verified by using Sanger sequencing. Pathogenicity of the variant was evaluated according...

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PMID: 32335873
DOI: 10.3760/cma.j.issn.1003-9406.2020.05.003

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