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

Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene.

Human genetics - 1 Mar 1992

Grundy C B, Schulman S, Krawczak M, Kobosko J, Kakkar V V, Cooper D N

Abstract excerpt

A CGA----TGA transition in the protein C gene, resulting in an Arg306----Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. Although an identical lesion has been reported previously in several Dutch families, RFLP typing indicated that the Dutch and Swedish mutations were unlikely...

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 Exons

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

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1348046
DOI: 10.1007/BF00219350

Genes

CGA

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

Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene.PMID 1348046Read ↗

A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.Semantic proximity Read ↗

Six different point mutations in seven Danish families with symptomatic protein C deficiency.Semantic proximity Read ↗

Gene analysis of heterozygous protein C deficiency in a patient with pulmonary arterial thromboembolism.Semantic proximity Read ↗

Genotypic variation in the promoter region of the protein C gene is associated with plasma protein C levels and thrombotic risk.Semantic proximity Read ↗

Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C.Semantic proximity Read ↗

Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.Semantic proximity Read ↗

Brief report: variability of thrombosis among homozygous siblings with resistance to activated protein C due to an Arg-->Gln mutation in the gene for factor V.Semantic proximity Read ↗

Three novel mutations in the protein C (PROC) gene causing venous thrombosis.Semantic proximity Read ↗

Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C.Semantic proximity Read ↗

Molecular basis for protein C hereditary deficiency.Semantic proximity Read ↗

Asymptomatic Homozygous Protein C DeficiencySemantic proximity Read ↗

A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.Semantic proximity Read ↗

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