Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families

Defects of integrin alpha(IIb)beta(3) are typical of Glanzmann's thrombasthenia, an inherited autosomal recessive bleeding disorder characterized by the failure of platelets to aggregate in response to all physiological agonists, but with no abnormalities in the number or size of platelets. Alt...

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Veröffentlicht in:Haematologica (Roma) 2009-05, Vol.94 (5), p.663-669
Hauptverfasser: Gresele, Paolo, Falcinelli, Emanuela, Giannini, Silvia, D'Adamo, Pio, D'Eustacchio, Angela, Corazzi, Teresa, Mezzasoma, Anna Maria, Di Bari, Filomena, Guglielmini, Giuseppe, Cecchetti, Luca, Noris, Patrizia, Balduini, Carlo L, Savoia, Anna
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Sprache:eng
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