Back to Search Start Over

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

Authors :
Jean-Claude Bordet
Xavier Pillois
Alan T. Nurden
Paquita Nurden
Institut Hospitalo-Universitaire de Rhythmologie et de Modélisation Cardiaque [Hôpital Xavier ARnozan]
BRIDGE-Platelet Bleeding Disorder Consortium [Cambridge]
Hôpital Edouard Herriot [CHU - HCL]
Hospices Civils de Lyon (HCL)
Université Claude Bernard Lyon 1 (UCBL)
Université de Lyon
Biologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases
Université de Bordeaux (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Boullé, Christelle
Source :
Blood Advances, Blood Advances, 2017, 1 (8), pp.494-499. ⟨10.1182/bloodadvances.2016002808⟩, Blood Advances, The American Society of Hematology, 2017, 1 (8), pp.494-499. ⟨10.1182/bloodadvances.2016002808⟩
Publication Year :
2016

Abstract

Key Points 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.

Details

ISSN :
24739529 and 24739537
Volume :
1
Issue :
8
Database :
OpenAIRE
Journal :
Blood advances
Accession number :
edsair.doi.dedup.....5e7f305cdcdcce880ccfaa79f0ed1ea4
Full Text :
https://doi.org/10.1182/bloodadvances.2016002808⟩