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[Clinical phenotype and variantal analysis of a pedigree affected with hereditary coagulation factor V deficiency].

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

Che Fengyu, Huang Wendi, Yang Ying, Wang Guoxia, Zhang Liyu, Liang Ruobing, Zhao Jiangang

Abstract excerpt

OBJECTIVE: To explore the molecular basis for a pedigree affected with coagulation factor V (FV) deficiency. METHODS: Clinical data of the patient and his family members was analyzed. Targeted capture and next-generation sequencing (NGS) and Sanger sequencing were carried out to detect potential variant of the FV gene. RESULTS: The patient presented with jaundice and prolonged prothrombin time (PT) and activated...

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Identifiers

PMID: 32219828
DOI: 10.3760/cma.j.issn.1003-9406.2020.04.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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