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Article

Two different beta3 cysteine substitutions alter alphaIIb beta3 maturation and result in Glanzmann thrombasthenia.

Thrombosis and haemostasis - 1 Jul 2002

Milet-Marsal S, Breillat C, Peyruchaud O, Nurden P, Combrié R, Nurden A, Bourre F

Abstract excerpt

We report the defects responsible for Glanzmann thrombasthenia in two patients showing traces of abnormally migrating platelet beta3 in immunoblotting. Using PCR-SSCP and direct sequencing, we identified a novel homozygous mutation in exon 10 of the beta3 gene of patient 1 which gave a C457 to Y amino acid substitution. A C542 to R substitution in beta3 of patient 2 was previously reported by us. These cysteines...

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Identifiers

PMID: 12152649

Genes

EGF

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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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