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Article

Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.

Journal of thrombosis and haemostasis : JTH - 1 Nov 2009

Kannan M, Ahmad F, Yadav B K, Kumar R, Choudhry V P, Saxena R

Abstract excerpt

BACKGROUND: Glanzmann thrombasthenia (GT) is an autosomal recessive inherited platelet function defect that is characterized by reduction in, or absence of, platelet aggregation in response to multiple physiologic agonists. The defect is caused by mutations in the genes encoding ITGA2B or ITGB3. This results in qualitative or quantitative abnormalities of the platelet receptor, alpha IIb-beta 3. OBJECTIVES: The...

Read the complete abstract on PubMed

Topics

Adolescent
Adult
Child
Child, Preschool
DNA Mutational Analysis
Family Health
Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Genotype

Humans

Infant

Integrin alpha2

Integrin beta3

Male

Middle Aged

Mutation

Penetrance

Phenotype

Platelet Aggregation

Source

Identifiers

PMID: 19691478
DOI: 10.1111/j.1538-7836.2009.03579.x

Genes

ITGB3

Provenance

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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Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.PMID 19691478Read ↗

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Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey.Semantic proximity Read ↗

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