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

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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Pubblicato in:Blood Adv
Autori principali: Nurden, Paquita, Bordet, Jean-Claude, Pillois, Xavier, Nurden, Alan T.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5728455/
https://ncbi.nlm.nih.gov/pubmed/29296966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2016002808
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