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[The Clinical Phenotype and Molecular Pathogenic Mechanism of a Family with Hereditary Coagulation Factor V Deficiency].

Zhongguo shi yan xue ye xue za zhi - 1 Dec 2024

Guo Li-Ping, Dong Chun-Xia, Wang Gang, Wang Mei-Fang, Yang Lin-Hua

Abstract excerpt

OBJECTIVE: To investigate the clinical phenotype and molecular pathogenic mechanism of a hereditary coagulation factor V deficiency (FⅤD) family. METHODS: A phase I assay was used to measure coagulation factors II, V, VII, VIII, IX, X, Ⅺ, Ⅻ (FⅡ∶C, FⅤ∶C, FⅦ∶C, FⅧ∶C, FⅨ∶C, FⅩ∶C, FⅪ∶C, FⅫ∶C), activated partial thromboplastin time (APTT) and prothrombin time (PT) to determine the clinical phenotype and molecular...

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Factor V
Factor V Deficiency
Mutation
Partial Thromboplastin Time
Pedigree

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Prothrombin Time

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PMID: 39743271
DOI: 10.19746/j.cnki.issn.1009-2137.2024.06.028

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