Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis

Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis

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 pa...

Full description

Bibliographic Details
Main Authors: Teresa Sevivas, José María Bastida, David S. Paul, Eva Caparros, Verónica Palma-Barqueros, Margarida Coucelo, Dalila Marques, Francisca Ferrer-Marín, José Ramón González-Porras, Vicente Vicente, Jesús María Hernández-Rivas, Steve P. Watson, María Luisa Lozano, Wolfgang Bergmeier, José Rivera
Format: Article
Language:English
Published: Taylor & Francis Group 2018-02-01
Series:Platelets
Subjects:
bleeding
dysfunction
platelets
rasgrp2
signaling
Online Access:http://dx.doi.org/10.1080/09537104.2017.1336214

Internet

http://dx.doi.org/10.1080/09537104.2017.1336214

Similar Items