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Article

High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis.

British journal of haematology - 1 Sept 1994

Beauchamp N J, Daly M E, Hampton K K, Cooper P C, Preston F E, Peake I R

Abstract excerpt

Recent findings have indicated the importance of factor V (FV) in causing resistance to activated protein C (APC) in a high proportion of patients with venous thrombosis. This prompted us to investigate whether resistance could be due to defective inactivation of FVa by APC. Consequently, we amplified a 3.2 kb fragment of the FV gene sequence encoding the heavy chain APC cleavage site. DNA analysis showed a...

Topics

Base Sequence
Factor V
Female
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Prevalence
Protein C
Thrombosis
United Kingdom

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7803250
DOI: 10.1111/j.1365-2141.1994.tb05005.x

Genes

APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7803250-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis.PMID 7803250Read ↗

The 1691 G-->A mutation in the factor V gene: relationship to activated protein C (APC) resistance and thrombosis in 65 patients.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 ↗

New molecular insights into the genetics of thrombophilia. Resistance to activated protein C caused by Arg506 to Gln mutation in factor V as a pathogenic 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 ↗

Prevalence of factor V Leiden mutation in various populations.Semantic proximity Read ↗

Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis.Semantic proximity Read ↗

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

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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 ↗

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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 and the FV:R506Q mutation in a random population sample--associations with cardiovascular risk factors and coagulation variables.Semantic proximity Read ↗

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