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

The RASGRP2 gene encodes the Ca(2+) 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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Platelets
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Taylor & Francis 2017
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5942149/
https://ncbi.nlm.nih.gov/pubmed/28762304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/09537104.2017.1336214
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados