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 hitherto unknown splice site defect in the protein S gene (PROS1): the mutation results in allelic exclusion and causes type I and type III protein S deficiency.

British journal of haematology - 1 Nov 1997

Mustafa S, Pabinger I, Vàradi K, Halbmayer W M, Lechner K, Schwarz H P, Fischer M, Mannhalter C

Abstract excerpt

A hitherto unknown splice site mutation, in the splice acceptor of intron B (tctag to tctgg), was identified in a symptomatic patient with type III protein S deficiency. The mutation co-segregated with type I/III protein S deficiency in the patient's family. RNA analysis showed allelic exclusion of the mutant transcript in affected individuals. The apparent type III deficiency in the propositus was not associated...

Read the complete abstract on PubMed

Topics

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

Share to Introns
Share to Loss of Heterozygosity

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

Share to Mutation

Share to Pedigree

Share to Protein S Deficiency

Share to Thrombophilia

Source

Identifiers

PMID: 9375743
DOI: 10.1046/j.1365-2141.1997.3883202.x

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 hitherto unknown splice site defect in the protein S gene (PROS1): the mutation results in allelic exclusion and causes type I and type III protein S deficiency.PMID 9375743Read ↗

A novel splice acceptor site mutation of protein S gene in affected individuals with type I protein S deficiency: allelic exclusion of the mutant gene.Semantic proximity Read ↗

Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.Semantic proximity Read ↗

Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy.Semantic proximity Read ↗

A frequent mutation in the protein S gene results in cryptic splicing.Semantic proximity Read ↗

Functional characterization of twelve natural PROS1 mutations associated with anticoagulant 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 ↗

Protein S Erlangen: a novel PROS1 gene mutation associated with quantitative protein S deficiency.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 ↗

PROS1 mutations associated with protein S deficiency in Polish patients with residual vein obstruction on rivaroxaban therapy.Semantic proximity Read ↗

Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency.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 ↗

A novel splice acceptor site mutation which produces multiple splicing abnormalities resulting in protein S deficiency type I.Semantic proximity Read ↗

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