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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.

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Blood Adv
Päätekijät: Nurden, Paquita, Bordet, Jean-Claude, Pillois, Xavier, Nurden, Alan T.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society of Hematology 2017
Aiheet:
Linkit: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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