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

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

Medicina (Kaunas, Lithuania) - 22 Sept 2020

Mrożek Magdalena, Wypasek Ewa, Alhenc-Gelas Martine, Potaczek Daniel P, Undas Anetta

Abstract excerpt

We identified a novel splice site mutation of the PROS1 gene in a Polish family with protein S (PS) deficiency and explored the molecular pathogenesis of this previously undescribed variant. A novel mutation was detected in a 26-year-old woman with a history of venous thromboembolism (VTE) provoked by oral contraceptives. Her family history of VTE was positive. The sequence analysis of the PROS1 gene was...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to Introns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Poland

Share to Protein S

Share to RNA Splice Sites

Share to Venous Thromboembolism

Source

Open in PubMed Open full text

Identifiers

PMID: 32971918
DOI: 10.3390/medicina56090485
PMCID: PMC7558706

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7.PMID 32971918Read ↗

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

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

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 ↗

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 ↗

PROS1 genotype phenotype relationships in a large cohort of adults with suspicion of inherited quantitative protein S deficiency.Semantic proximity Read ↗

Five new mutations in the PROS1 gene associated with protein S deficiency in Polish patients screened for thrombophilia: efficacy of direct oral anticoagulant treatment.Semantic proximity Read ↗

A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.Semantic proximity Read ↗

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

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

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