Article
Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.
Platelets - 1 Mar 2018
Sevivas Teresa, Bastida José María, Paul David S, Caparros Eva, Palma-Barqueros Verónica, Coucelo Margarida, Marques Dalila, Ferrer-Marín Francisca, González-Porras José Ramón, Vicente Vicente, Hernández-Rivas Jesús María, Watson Steve P, Lozano María Luisa, Bergmeier Wolfgang, Rivera José
Abstract excerpt
The RASGRP2 gene encodes the Ca2+ 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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.