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

A rare splicing mutation in the PROS1 gene of a Korean patient with type I hereditary protein S deficiency.

Annals of clinical and laboratory science - 1 Jan 2011

Choi Jonghyeon, Kim Hee-Jin, Chang Myung Hee, Choi Jong-Rak, Yoo Jong-Ha

Abstract excerpt

Hereditary protein S (PS) deficiency (Gene ID: 5627; MIM # 176880) is a notable risk factor for recurrent venous thrombosis, inherited as an autosomal-dominant trait, either homozygous or heterozygous. It may be caused by point mutations in the gene (PROS1) encoding PS, which contains 15 exons on the chromosome 3q11.2. Only a few point mutations associated with the PROS1 gene in patients with hereditary PS...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Base Sequence
Share to Blood Proteins

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

Share to Pedigree

Share to Protein S

Share to Protein S Deficiency

Share to Republic of Korea

Share to RNA Splicing

Source

Identifiers

PMID: 22166512

Genes

PROS1

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

A rare splicing mutation in the PROS1 gene of a Korean patient with type I hereditary protein S deficiency.PMID 22166512Read ↗

[A homozygous variant in a consanguineous pedigree with inherited protein S deficiency].Semantic proximity Read ↗

One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.Semantic proximity Read ↗

Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7.Semantic proximity Read ↗

Venous thromboembolism associated with protein S deficiency due to Arg451* mutation in PROS1 gene: a case report and a literature review.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 ↗

Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in ChinaSemantic proximity Read ↗

Recurrent pulmonary embolism associated with deep venous thrombosis diagnosed as protein s deficiency owing to a novel mutation in PROS1: A case report.Semantic proximity Read ↗

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

Molecular basis of protein S deficiency in ChinaSemantic proximity Read ↗

[PROSI Mutation With Clinical Heterogeneity in Protein S Deficiency:Report of One Case].Semantic proximity Read ↗

[Pedigree survey in a family with hereditary protein S deficiency].Semantic proximity Read ↗

A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein S.Semantic proximity Read ↗

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