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

Genetic analysis of a large kindred exhibiting type I protein C deficiency and associated thrombosis.

Thrombosis research - 1 May 1994

Tomczak J A, Ando R A, Sobel H G, Bovill E G, Long G L

Abstract excerpt

A previously described large Vermont kindred possessing a high incidence of venous thromboembolism with associated Type I protein C deficiency (1) has been genetically analyzed. All nine exons of the protein C gene, including both coding and non-coding regions, have been amplified from blood cell genomic DNA using the Tag DNA polymerase chain reaction (PCR) and primers corresponding to flanking intronic regions,...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence
Share to Blotting, Southern

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

Share to CAT gene

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 7913773
DOI: 10.1016/0049-3848(94)90112-0

Genes

CAT

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

Genetic analysis of a large kindred exhibiting type I protein C deficiency and associated thrombosis.PMID 7913773Read ↗

Genome scan of venous thrombosis in a pedigree with protein C deficiency.Semantic proximity Read ↗

Genetic screening of candidate genes for a prothrombotic interaction with type I protein C deficiency in a large kindred.Semantic proximity Read ↗

Protein C deficiency in a family with thromboembolism and identified gene mutations.Semantic proximity Read ↗

Adult-onset arterial thrombosis in a pedigree of homozygous and heterozygous protein C deficiency.Semantic proximity Read ↗

The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.Semantic proximity Read ↗

Genome scan of clot lysis time and its association with thrombosis in a protein C-deficient kindred.Semantic proximity Read ↗

Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.Semantic proximity Read ↗

Gene mutations in 21 unrelated cases of phenotypic heterozygous protein C deficiency and thrombosis. Protein C Study Group.Semantic proximity Read ↗

Legg-Calve-Perthes disease, venous and arterial thrombi, and the factor V Leiden mutation in a four-generation kindred.Semantic proximity Read ↗

The G20210A prothrombin polymorphism is not associated with increased thromboembolic risk in a large protein C deficient kindred.Semantic proximity Read ↗

Cell adhesion molecule 1: a novel risk factor for venous thrombosis.Semantic proximity Read ↗

Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.Semantic proximity Read ↗

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