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Journal Articles Blood Advances Year : 2017

An intracytoplasmic β3 Leu718 deletion in a patient with a novel platelet phenotype

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Abstract

A novel heterozygous ITGB3 Leu718del shows loss of synchronization between the intracytoplasmic tail of β3 with that of αIIb.Decreased activation of αIIbβ3 accompanies enlarged platelets that contain giant granules and give a poor aggregation response.
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inserm-02469399 , version 1 (06-02-2020)

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Paquita Nurden, Jean-Claude Bordet, Xavier Pillois, Alan T. Nurden. An intracytoplasmic β3 Leu718 deletion in a patient with a novel platelet phenotype. Blood Advances, 2017, 1 (8), pp.494-499. ⟨10.1182/bloodadvances.2016002808⟩. ⟨inserm-02469399⟩
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