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Dominant inheritance of a novel integrin β3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families

By Paolo Gresele, Emanuela Falcinelli, Silvia Giannini, Pio D’Adamo, Angela D’Eustacchio, Teresa Corazzi, Anna Maria Mezzasoma, Filomena Di Bari, Giuseppe Guglielmini, Luca Cecchetti, Patrizia Noris, Carlo L. Balduini and Anna Savoia

Abstract

Glanzmann’s thrombasthenia is a bleeding disorder caused by mutations of the ITGA2B or ITGB3 genes. This paper describes two Italian families with moderate thrombocytopenia with large platelets, defective platelet function and moderate/severe mucocutaneous bleeding, transmitted as an autosomal dominant trait and associated with a novel mutation in the ITGB3 gene, encoding the integrin β chain β3. This report adds to previous studies of mutant alleles which illustrate the importance of signaling via this integrin for platelet function as well as for platelet formation

Topics: Original Article
Publisher: Ferrata Storti Foundation
OAI identifier: oai:pubmedcentral.nih.gov:2675678
Provided by: PubMed Central
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