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Article

Identification and functional characterization of a novel F5 mutation (Ala512Val, FVB onn ) associated with activated protein C resistance.

Journal of thrombosis and haemostasis : JTH - 1 Jul 2016

Pezeshkpoor B, Castoldi E, Mahler A, Hanel D, Müller J, Hamedani N S, Biswas A, Oldenburg J, Pavlova A

Abstract excerpt

UNLABELLED: Essentials Activated protein C (APC) resistance is a prevalent risk factor for venous thrombosis. A novel missense mutation (Ala512Val - FVBonn ) was characterized in vitro and in silico. FVBonn is a new cause of APC resistance and venous thrombosis. FVBonn expresses additionally enhanced procoagulant activity in the absence of APC. SUMMARY: Background Activated protein C (APC) resistance is a...

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Source

Identifiers

PMID: 27090446
DOI: 10.1111/jth.13339

Genes

APC

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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