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

Author:

Sevivas Teresa1,Bastida José María2,Paul David S.3,Caparros Eva4,Palma-Barqueros Verónica4ORCID,Coucelo Margarida1ORCID,Marques Dalila1,Ferrer-Marín Francisca45,González-Porras José Ramón2,Vicente Vicente4,Hernández-Rivas Jesús María2,Watson Steve P.6,Lozano María Luisa4ORCID,Bergmeier Wolfgang3,Rivera José47ORCID

Affiliation:

1. Serviço de Hematologia Clínica do Centro Hospitalar e Universitário do Centro Hospitalar de Coimbra, EPE, S. Martinho do Bispo, Portugal

2. Servicio de Hematología, IBSAL-Hospital Universitario de Salamanca, Salamanca, Spain

3. Department of Biochemistry and Biophysics, and McAllister Heart Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

4. Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, Murcia, Spain

5. Grado de Medicina, Universidad Católica de Murcia (UCAM), Murcia, Spain

6. Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK

7. On behalf of “Inherited Platelet Disorders Project”, Hemorrhagic Diathesis Working Group, SETH, Spain

Funder

American Heart Association

National Heart, Lung, and Blood Institute

Sociedad Española de Trombosis y Hemostasia

Instituto de Salud Carlos III and Feder

Fundación Séneca

Gerencia Regional de Salud

British Heart Foundation

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

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