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Article

Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome.

Proceedings of the National Academy of Sciences of the United States of America - 1 Mar 1990

Ware J, Russell S R, Vicente V, Scharf R E, Tomer A, McMillan R, Ruggeri Z M

Abstract excerpt

Three distinct gene products, the alpha and beta chains of glycoprotein (GP) Ib and GP IX, constitute the platelet membrane GP Ib-IX complex, a receptor for von Willebrand factor and thrombin involved in platelet adhesion and aggregation. Defective function of the GP Ib-IX complex is the hallmark of a rare congenital bleeding disorder of still undefined pathogenesis, the Bernard-Soulier syndrome. We have analyzed...

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Identifiers

PMID: 2308962
DOI: 10.1073/pnas.87.5.2026
PMCID: PMC53618

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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.

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Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome.PMID 2308962Read ↗

A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome.Semantic proximity Read ↗

Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.Semantic proximity Read ↗

Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.Semantic proximity Read ↗

Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome.Semantic proximity Read ↗

Molecular and genetic analysis of two patients with Bernard-Soulier syndrome--identification of new mutations in glycoprotein Ib alpha gene.Semantic proximity Read ↗

Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families.Semantic proximity Read ↗

Bernard-Soulier syndrome Karlstad: Trp 498-->Stop mutation resulting in a truncated glycoprotein Ib alpha that contains part of the transmembranous domain.Semantic proximity Read ↗

Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations?Semantic proximity Read ↗

Single novel mutation in transmembrane region of glycoprotein (GP) IX affects GP Ib- IX complex expression and causes Bernard-Soulier syndrome.Semantic proximity Read ↗

Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families.Semantic proximity Read ↗

The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ib alpha.Semantic proximity Read ↗

Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome.Semantic proximity Read ↗

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