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Article

Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy.

British journal of haematology - 1 Oct 2003

Dargaud Yesim, Trzeciak Marie C, Meunier Sandrine, Angei Christele, Pellechia Dorothee, Négrier Claude, Vinciguerra Christine, Dargaud Yesmin

Abstract excerpt

Activated protein C (APC) resistance phenotype/genotype discrepancy is a very rare event. The objective of this study was to characterize the molecular mechanisms in two cases of APC phenotype/genotype discrepancy. An approach using direct sequencing of each exon and splicing junctions of the factor V gene showed that two novel factor V null mutations combined with heterozygous factor V Leiden mutation were...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14531918
DOI: 10.1046/j.1365-2141.2003.04620.x

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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