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Article

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.

Platelets - 1 Jan 2018

Nurden Alan T, Pillois Xavier

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

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Identifiers

PMID: 29125375
DOI: 10.1080/09537104.2017.1371291

Genes

ITGB3

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ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.PMID 29125375Read ↗

Genetic characterization of Glanzmann thrombasthenia: insights from novel igta2b mutations in a Tunisian patient cohort.Semantic proximity Read ↗

Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.Semantic proximity Read ↗

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 ↗

Twins With an Identical Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome.Semantic proximity Read ↗

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.Semantic proximity Read ↗

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

A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations.Semantic proximity Read ↗

Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.Semantic proximity Read ↗

Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations.Semantic proximity Read ↗

Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression.Semantic proximity Read ↗

Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann's thrombasthenia.Semantic proximity Read ↗

Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.Semantic proximity Read ↗

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