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Article

Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome.

Blood - 1 May 1993

Wright S D, Michaelides K, Johnson D J, West N C, Tuddenham E G

Abstract excerpt

Bernard-Soulier syndrome (BSS) giant platelets have defective and/or deficient glycoprotein (GP) Ib/IX complexes, causing absent ristocetin-induced aggregation, defective interaction with von Willebrand factor, morphologic abnormality, and a clinical bleeding tendency. Recently several mutations...

Topics

Amino Acid Sequence
Base Sequence
Bernard-Soulier Syndrome
DNA
Female
Genetic Carrier Screening
Humans
Introns
Male
Middle Aged
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oligodeoxyribonucleotides

Pedigree

Platelet Membrane Glycoproteins

Polymerase Chain Reaction

Repetitive Sequences, Nucleic Acid

Source

Identifiers

PMID: 8481514

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8481514-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome.PMID 8481514Read ↗

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