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

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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https://www.hal.inserm.fr/inserm-02469399
Contributor : Christelle Boullé <>
Submitted on : Thursday, February 6, 2020 - 3:18:57 PM
Last modification on : Thursday, February 13, 2020 - 1:35:05 AM

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

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