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[Genetic analysis of a Chinese pedigree affected with Hereditary coagulation factor Ⅴ deficiency due to compound heterozygous variants IVS24+3A>T and p.Asp2222Gly].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2026

Qin Langyi, Lin Shuangnyu, Xie Yaosheng, Xie Haixiao, Yang Lihong, Wang Mingshan, Jin Yanhui

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic etiology for a Chinese pedigree affected with Hereditary coagulation factor Ⅴ deficiency (FⅤD). METHODS: A 47-year-old female who visited the First Affiliated Hospital of Wenzhou Medical University in July 2025 and her family members (husband, mother, younger brother and younger brother's wife, elder sister, second elder sister, daughter, son, elder niece,...

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East Asian People
Factor V
Factor V Deficiency
Heterozygote
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42386665
DOI: 10.3760/cma.j.cn511374-20251013-00598

Genes

F5

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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