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Article

Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2015

Nuzzo F, Bulato C, Nielsen B I, Lee K, Wielders S J, Simioni P, Key N S, Castoldi E

Abstract excerpt

Coagulation factor V (FV) deficiency is a rare autosomal recessive bleeding disorder. We investigated a patient with severe FV deficiency (FV:C < 3%) and moderate bleeding symptoms. Thrombin generation experiments showed residual FV expression in the patient's plasma, which was quantified as 0.7 ± 0.3% by a sensitive prothrombinase-based assay. F5 gene sequencing identified a novel missense mutation in exon 4...

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PMID: 25470420
DOI: 10.1111/hae.12554

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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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