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Analysis of phenotype and genotype of a family with hereditary coagulation factor V deficiency caused by the compound heterozygous mutations.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 2020

Luo Shasha, Liu Siqi, Xu Mengjie, Li Xiaolong, Zhang Haiyue, Jin Yanhui, Yang Lihong, Wang Mingshan

Abstract excerpt

: To analyze the causative gene and the molecular pathogenesis in a pedigree with compound hereditary coagulation factor V deficiency. Routine blood coagulation indexes and factor V antigen (FV:Ag) were detected by the one-stage clotting method and ELISA. Function of the mutant protein was evaluated by the method Calibrated Automated Thrombogram (CAT). The factor V gene was amplified by PCR with direct...

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PMID: 32833806
DOI: 10.1097/MBC.0000000000000946

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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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