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...

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Autori principali:	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
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Taylor & Francis Group 2018-02-01
Serie:	Platelets
Soggetti:	bleeding dysfunction platelets rasgrp2 signaling
Accesso online:	http://dx.doi.org/10.1080/09537104.2017.1336214
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