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Article

Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent.

British journal of haematology - 1 Nov 2016

Pillois Xavier, Nurden Alan T

Abstract excerpt

We recently reported mutation analysis of the largest cohort of Glanzmann thrombasthenia (GT) patients so far examined. Sanger sequencing of coding regions, splice sites, upstream and downstream regions of the ITGA2B and ITGB3 genes identified 78 causal genetic variants (55 novel); 4 large deletions or duplications were also detected. We have now analysed the expression of non-causal gene polymorphisms in the...

Topics

Alleles
Cohort Studies
Gene Frequency
Genetic Drift
Genetic Variation
Genotype
Haplotypes
Humans
Integrin alpha2
Integrin beta3
Linkage Disequilibrium

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymorphism, Genetic

Thrombasthenia

Source

Identifiers

PMID: 27469266
DOI: 10.1111/bjh.14283

Genes

ITGB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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