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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5942149/
https://www.ncbi.nlm.nih.gov/pubmed/28762304
http://dx.doi.org/10.1080/09537104.2017.1336214

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