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.

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Article

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.

Blood - 15 Jan 1992

Miller J L, Lyle V A, Cunningham D

Abstract excerpt

The primary sequences of the three individual glycoprotein (GP) chains, GPIb alpha, GPIb beta, and GPIX, comprising the normal platelet GPIb/IX receptor for von Willebrand factor (vWF) have recently been determined, opening the possibility for characterization of disorders of this receptor at the molecular level. The presence of a leucine tandem repeat in each of these chains is of particular interest, because...

Topics

Adolescent
Bernard-Soulier Syndrome
Blood Platelets
DNA
Electrophoresis, Polyacrylamide Gel
Humans
Leucine
Male
Mutation
Nucleic Acid Hybridization
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenylalanine

Platelet Membrane Glycoproteins

Polymerase Chain Reaction

Repetitive Sequences, Nucleic Acid

Ristocetin

von Willebrand Factor

Source

Open in PubMed

Identifiers

PMID: 1730088

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1730088-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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