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Article

Molecular characterization of 11 novel mutations in patients with heterozygous and homozygous FV deficiency.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Nov 2010

Cutler J A, Patel R, Rangarajan S, Tait R C, Mitchell M J

Abstract excerpt

Coagulation factor V (FV) has an important role in the blood coagulation cascade, in both the pro- and anticoagulant pathways. FV deficiency is a rare bleeding disorder with variable phenotypic expression. We report a cohort of 10 patients with mild-severe FV deficiency in whom a total of 11 novel mutations were identified. Three patients were compound heterozygous for two mutations, whereas each of the remaining...

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Source

Identifiers

PMID: 20546033
DOI: 10.1111/j.1365-2516.2010.02330.x

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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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