Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The Journal of clinical investigation - 1 Dec 1994

Zöller B, Svensson P J, He X, Dahlbäck B

Abstract excerpt

Resistance to activated protein C (APC) is the most prevalent inherited cause of venous thrombosis. The APC resistance phenotype is associated with a single point mutation in the factor V gene, changing Arg506 in the APC cleavage site to a Gln. We have investigated 50 Swedish families with inherited APC resistance for this mutation and found it to be present in 47 of them. Perfect cosegregation between a low APC...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to Drug Resistance

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

Share to Genetic Predisposition to Disease

Share to Heterozygote

Share to Homozygote

Share to Molecular Sequence Data

Share to Point Mutation

Share to Risk Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 7989612
DOI: 10.1172/JCI117623
PMCID: PMC330087

Genes

APC

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C.PMID 7989612Read ↗

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

Co-segregation of thrombosis with the factor V Q506 mutation in an extended family with resistance to activated protein C.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 ↗

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

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

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 ↗

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 ↗

Resistance to activated protein C caused by a factor V gene mutation.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 ↗

Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein SSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.