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Article

Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.

The Journal of clinical investigation - 15 Oct 1996

Jin Y, Dietz H C, Montgomery R A, Bell W R, McIntosh I, Coller B, Bray P F

Abstract excerpt

Glanzmann thrombasthenia (GT), an autosomal recessive bleeding disorder, results from abnormalities in the platelet fibrinogen receptor, GP(IIb)-IIIa (integrin alpha(IIb)beta3). A patient with GT was identified as homozygous for a G-->A mutation 6 bp upstream of the GP(IIIa) exon 9 splice donor site. Patient platelet GP(IIIa) transcripts lacked exon 9 despite normal DNA sequence in all of the cis-acting sequences...

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Identifiers

PMID: 8878424
DOI: 10.1172/JCI118973
PMCID: PMC507612

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Source receipt: pubmed, retrieved 7 Sept 2026.

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