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Article

A novel mutation (Ser951LeufsTer8) in F5 gene leads to hereditary coagulation factor V deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2021

Su Kankan, Wang Lin, Wang Mingshan, Wang Hong

Abstract excerpt

The current study aims to explore the phenotype and genotype of a novel mutation (Ser951LeufsTer8) of F5 gene combined with polymorphism (R485K) in a family of hereditary coagulation factor V deficiency. The factor V activity and antigen were tested with clotting assay and ELISA. The F5 gene was amplified by PCR with direct sequencing and TA-clone-sequenced. The protein structure and harmfulness of the mutation...

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Source

Identifiers

PMID: 33443922
DOI: 10.1097/MBC.0000000000001003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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