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Article

Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V.

British journal of haematology - 1 Nov 1997

Castaman G, Lunghi B, Missiaglia E, Bernardi F, Rodeghiero F

Abstract excerpt

Two patients from two unrelated families with a history of thrombosis showed severe plasma activated protein C (APC) resistance. However, genotypic analysis demonstrated that the patients were heterozygous for factor V (FV) Leiden mutation. Coagulation studies revealed that FV clotting activity a...

Topics

Adult
Blood Protein Disorders
Factor V
Female
Heterozygote
Homozygote
Humans
Male
Mutation
Pedigree
Phenotype
Protein C Deficiency

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Source

Identifiers

PMID: 9375735
DOI: 10.1046/j.1365-2141.1997.3993213.x

Genes

APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9375735-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V.PMID 9375735Read ↗

Molecular bases of pseudo-homozygous APC resistance: the compound heterozygosity for FV R506Q and a FV null mutation results in the exclusive presence of FV Leiden molecules in plasma.Semantic proximity Read ↗

Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is "pseudo homozygous" for activated protein C resistance.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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Factor V Leiden and activated protein C resistance.Semantic proximity Read ↗

Elevated Levels of Prothrombin Activation Fragment 1+2 in Plasma from Patients with Heterozygous Arg506 to Gin Mutation in the Factor V Gene (APC-Resistance) and/or Inherited Protein S DeficiencySemantic proximity Read ↗

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

A novel factor V compound heterozygous mutation associated with thrombosis (Y1961C; FV-Kanazawa, together with 1982_1983del).Semantic proximity Read ↗

Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family.Semantic proximity Read ↗

Phenotypic APC resistance in carriers of the A20210 prothrombin mutation is associated with an increased risk of venous thrombosis.Semantic proximity Read ↗

Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French Network on the behalf of INSERM.Semantic proximity Read ↗

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

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