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Article

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.

Blood - 15 Nov 1995

Li C, Martin S E, Roth G J

Abstract excerpt

Bernard-Soulier syndrome (B-Ss) is a rare congenital bleeding disorder caused by abnormal giant platelets, thrombocytopenia, and defective glycoprotein (GP) Ib-V-IX, the adhesion receptor for von Willebrand factor (vWF). This report describes the molecular defect in two related individuals with w...

Topics

Alleles
Amino Acid Sequence
Animals
Bernard-Soulier Syndrome
Female
Humans
L Cells
Leucine
Male
Mice
Platelet Glycoprotein GPIb-IX Complex
Point Mutation
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Structure, Tertiary

Repetitive Sequences, Nucleic Acid

Sequence Alignment

Sequence Homology, Amino Acid

Source

Identifiers

PMID: 7579348

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7579348-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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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.PMID 7579348Read ↗

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

Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.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 ↗

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 ↗

A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies.Semantic proximity Read ↗

Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.Semantic proximity Read ↗

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

Spectrum of the mutations in Bernard-Soulier syndrome.Semantic proximity Read ↗

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