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Factor V New Brunswick: Ala221Val associated with FV deficiency reproduced in vitro and functionally characterized.

Blood - 15 Aug 2003

Steen Marten, Miteva Maria, Villoutreix Bruno O, Yamazaki Tomio, Dahlbäck Björn

Abstract excerpt

Factor V (FV) deficiency, also known as parahemophilia, is a rare bleeding disorder. Herein we investigate the first reported missense mutation associated with FV deficiency, Ala221Val, assigned as FV New Brunswick. To elucidate the molecular pathology associated with the Ala221Val substitution, the mutation was recreated in a recombinant system together with 3 FV mutants (Ala221Gly, Glu275Gln, and...

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PMID: 12714495
DOI: 10.1182/blood-2003-01-0116

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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