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Article

Impaired APC cofactor activity of factor V plays a major role in the APC resistance associated with the factor V Leiden (R506Q) and R2 (H1299R) mutations.

Blood - 1 Jun 2004

Castoldi Elisabetta, Brugge Jeroen M, Nicolaes Gerry A F, Girelli Domenico, Tans Guido, Rosing Jan

Abstract excerpt

Activated protein C (APC) resistance is a major risk factor for venous thrombosis. Factor V (FV) gene mutations like FV(Leiden) (R506Q) and FV(R2) (H1299R) may cause APC resistance either by reducing the susceptibility of FVa to APC-mediated inactivation or by interfering with the cofactor activity of FV in APC-catalyzed FVIIIa inactivation. We quantified the APC cofactor activity expressed by FV(Leiden) and...

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Source

Identifiers

PMID: 14976057
DOI: 10.1182/blood-2003-10-3578

Genes

APC

Variants

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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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