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

Sense, missense, and nonsense: a novel mechanism of premature termination codon (PTC) mutation in a severe von Willebrand disease (VWD) patient.

Annals of hematology - 1 Aug 2015

Kasatkar Priyanka, Kulkarni Bipin, Ghosh Kanjaksha, Shetty Shrimati

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Codon, Nonsense
Share to Mutation
Share to Polymorphism, Single Nucleotide

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

Share to von Willebrand Diseases

Share to von Willebrand Factor

Source

Identifiers

PMID: 25869031
DOI: 10.1007/s00277-015-2373-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 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

Sense, missense, and nonsense: a novel mechanism of premature termination codon (PTC) mutation in a severe von Willebrand disease (VWD) patient.PMID 25869031Read ↗

A stop codon in a patient with severe type III von Willebrand disease.Semantic proximity Read ↗

A G+3-to-T donor splice site mutation leads to skipping of exon 50 in von Willebrand factor mRNA.Semantic proximity Read ↗

Predicted homozygous mis-sense mutation in Gilbert's syndrome.Semantic proximity Read ↗

A common point mutation producing type 1A antithrombin III deficiency: AT129 CGA to TGA (Arg to Stop).Semantic proximity Read ↗

Nonsense mutation Arg197stop in a Dutch family with type 1 hereditary antithrombin (AT) deficiency causing thrombophilia.Semantic proximity Read ↗

Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin geneSemantic proximity Read ↗

Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease.Semantic proximity Read ↗

Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA.Semantic proximity Read ↗

Vulnerable mutation Trp126-->stop of glycoprotein IX in Japanese Bernard-Soulier syndrome.Semantic proximity Read ↗

A novel initiation codon mutation (ATG-->ATT) in a beta-thalassemia patient.Semantic proximity Read ↗

Protein C deficiency found in a patient with acute myocardial infarction: a single base mutation 157 Arg (CGA) to stop codon (TGA).Semantic proximity Read ↗

Homozygous nonsense mutation (Cys72-->stop) in the human F7 gene: a not life-threatening mutation despite the absence of circulating factor VII.Semantic proximity Read ↗

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