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Article

Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia.

Haematologica - 1 Jan 2000

De Stefano V, Leone G

Abstract excerpt

Inherited resistance to activated protein C (APC) was recently recognized as a novel cause underlying venous thrombophilia. In most cases APC-resistance is due to a single point mutation in the factor V gene leading to a replacement of Arg506 with Gln (factor V Leiden). Amino acid substitution oc...

Topics

Adult
Anticoagulants
Artifacts
Cohort Studies
Enzyme Activation
Factor V
Factor V Deficiency
Factor Va
Female
Gene Frequency
Genetic Predisposition to Disease
Heparin
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Partial Thromboplastin Time

Point Mutation

Pregnancy

Source

Identifiers

PMID: 7590506

Genes

APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7590506-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia.PMID 7590506Read ↗

Inherited resistance to activated protein C, a major cause of venous thrombosis, is due to a mutation in the factor V gene.Semantic proximity Read ↗

Resistance to activated protein C caused by the R506Q mutation in the gene for factor V is a common risk factor for venous thrombosis.Semantic proximity Read ↗

Congenital and acquired activated protein C resistance.Semantic proximity Read ↗

Inherited resistance to activated protein C caused by presence of the FV:Q506 allele as a basis of venous thrombosis.Semantic proximity Read ↗

Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C.Semantic proximity Read ↗

Resistance to activated protein C caused by the factor VR506Q mutation is a common risk factor for venous thrombosis.Semantic proximity Read ↗

Activated protein C resistance due to a common factor V gene mutation is a major risk factor for venous thrombosis.Semantic proximity Read ↗

Factor V Leiden and activated protein C resistance.Semantic proximity Read ↗

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