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Article

Gene of the issue: GP1BA gene mutations associated with bleeding.

Platelets - 1 Dec 2017

Othman Maha, Emsley Jonas

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

Identifiers

PMID: 28961024
DOI: 10.1080/09537104.2017.1361526

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Gene of the issue: GP1BA gene mutations associated with bleeding.PMID 28961024Read ↗

Gene of the issue: RUNX1 mutations and inherited bleeding.Semantic proximity Read ↗

A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia.Semantic proximity Read ↗

PTGS1 gene variations associated with bleeding and platelet dysfunction.Semantic proximity Read ↗

Identification of p.W246L as a novel mutation in the GP1BA gene responsible for platelet-type von Willebrand disease.Semantic proximity Read ↗

Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.Semantic proximity Read ↗

"A novel homozygous splice-site variant in VPS33B identified as a cause of bleeding": commentSemantic proximity Read ↗

A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis.Semantic proximity Read ↗

A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.Semantic proximity Read ↗

All too common: bleeding and genetic variation.Semantic proximity Read ↗

A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia.Semantic proximity Read ↗

R924Q substitution encoded within exon 21 of the von Willebrand factor gene related to mild bleeding phenotype.Semantic proximity Read ↗

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlationsSemantic proximity Read ↗

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