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

Combined occurrence of a heterozygous missense mutation in the protein C gene and allelic exclusion of one protein S allele leading to severe venous thrombosis.

Thrombosis research - 1 Jul 2001

Knoll B, Hach-Wunderle V, Rieger S, Häring D, Mannhalter C

Abstract excerpt

Individuals with more than one defect in the natural anticoagulant system exhibit an increased risk for thrombosis. We report on a family with two cases of combined protein C (PROC) and protein S (PROS) deficiency, five cases of isolated PROC deficiency Type I, and two cases of isolated PROS deficiency Type I. PROC and PROS deficiency were documented by functional and immunologic tests. The sequencing of all...

Read the complete abstract on PubMed

Topics

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

Share to Family Health
Share to Heterozygote

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

Share to Loss of Heterozygosity

Share to Mutation, Missense

Share to Protein C

Share to Protein S

Share to Severity of Illness Index

Share to Venous Thrombosis

Source

Identifiers

PMID: 11434940
DOI: 10.1016/s0049-3848(01)00232-8

Genes

PROC

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

Combined occurrence of a heterozygous missense mutation in the protein C gene and allelic exclusion of one protein S allele leading to severe venous thrombosis.PMID 11434940Read ↗

[Genetic and Clinical Characteristics of A Family with Combined PROC and PROS1 Genetic Variants].Semantic proximity Read ↗

Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.Semantic proximity Read ↗

Severe Protein C Deficiency due to Novel Biallelic Variants in PROC and Their Phenotype Correlation.Semantic proximity Read ↗

Severe perinatal thrombosis in double and triple heterozygous offspring of a family segregating two independent protein S mutations and a protein C mutation.Semantic proximity Read ↗

[Clinical and genetic analysis of two families with combined defect in antithrombin and protein C genes].Semantic proximity Read ↗

Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia.Semantic proximity Read ↗

Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations.Semantic proximity Read ↗

Molecular basis of protein S deficiency.Semantic proximity Read ↗

A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with AneurysmsSemantic proximity Read ↗

Novel insights into inherited protein C deficiency from an interactive PROC variant database.Semantic proximity Read ↗

A Thrombophilia Family With Protein S Deficiency Due to Protein Translation Disorders Caused By a Leu607Ser Heterozygous Mutation in PROS1Semantic proximity Read ↗

Loss of protein C vs protein S results in discrepant thrombotic phenotypes.Semantic proximity Read ↗

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