Ontology highlight
ABSTRACT:
SUBMITTER: Sevivas T
PROVIDER: S-EPMC5942149 | biostudies-other | 2018 Mar
REPOSITORIES: biostudies-other
Sevivas Teresa T Bastida José María JM Paul David S DS Caparros Eva E Palma-Barqueros Verónica V Coucelo Margarida M Marques Dalila D Ferrer-Marín Francisca F González-Porras José Ramón JR Vicente Vicente V Hernández-Rivas Jesús María JM Watson Steve P SP Lozano María Luisa ML Bergmeier Wolfgang W Rivera José J
Platelets 20170801 2
The RASGRP2 gene encodes the Ca<sup>2+</sup> and DAG-regulated guanine nucleotide exchange factor I (CalDAG-GEFI), which plays a key role in integrin activation in platelets and neutrophils. We here report two new RASGRP2 variants associated with platelet dysfunction and bleeding in patients. The homozygous patients had normal platelet and neutrophil counts and morphology. Platelet phenotyping showed: prolonged PFA-100 closure times; normal expression of major glycoprotein receptors; severely re ...[more]