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Article

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

International journal of laboratory hematology - 1 Oct 2020

Ali Tooba, Gul Saira, Amar Ali, Shakoor Madiha, Farhan Saima, Mohsin Shahida, Khaliq Shagufta

Abstract excerpt

INTRODUCTION: Glanzmann thrombasthenia (GT) is most common of inherited platelet disorders, resulting from quantitative/qualitative defects in platelet surface integrin αIIbβ3, encoded by ITGA2B and ITGB3 genes. Little is known about clinical and molecular characteristics of GT patients from highly consanguineous Pakistani population. METHODS: This study analyzed the clinical and molecular spectrum of six GT...

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

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Identifiers

PMID: 32558238
DOI: 10.1111/ijlh.13266

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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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