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Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.

Hamostaseologie - 1 Dec 2023

Chen Yuan, Zhang Ke, Jin Yanhui, Zeng Manlin, Jia Kaiqi, Yang Lihong, Wang Mingshan

Abstract excerpt

OBJECTIVE: This study aims to provide a preliminary discussion of the molecular basis of FV deficiency caused by compound heterozygous mutations in two Chinese families. METHODS: Relative coagulation index was measured by the one-stage clotting method and the FV:Ag was measured by ELISA. All exons and flanking regions of the F5 gene were amplified by PCR and directly sequenced. ClustalX-2.1-win was used to...

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PMID: 37321256
DOI: 10.1055/a-2086-4328

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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