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Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.
Lozano, María Luisa; Cook, Aaron; Bastida, José María; Paul, David S; Iruin, Gemma; Cid, Ana Rosa; Adan-Pedroso, Rosa; Ramón González-Porras, José; Hernández-Rivas, Jesús María; Fletcher, Sarah J; Johnson, Ben; Morgan, Neil; Ferrer-Marin, Francisca; Vicente, Vicente; Sondek, John; Watson, Steve P; Bergmeier, Wolfgang; Rivera, José.
Afiliação
  • Lozano ML; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, Instituto Murciano de Investigaciones Biomédicas-Arrixaca, Murcia, Spain;
  • Cook A; Department of Biochemistry and Biophysics, University of North Carolina at Chapel Hill, Chapel Hill, NC;
  • Bastida JM; Department of Hematology, Instituto de Investigación Biomédica de Salamanca-Hospital Universitario de Salamanca, Salamanca, Spain;
  • Paul DS; McAllister Heart Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC;
  • Iruin G; Servicios de Hematología, Pediatría y Oncología Infantil, Hospital de Cruces, Bilbao, Spain;
  • Cid AR; Unidad de Hemostasia y Trombosis, Servicio de Hematología y Hemostasia, Hospital Universitario Politécnico de la Fe, Valencia, Spain;
  • Adan-Pedroso R; Servicios de Hematología, Pediatría y Oncología Infantil, Hospital de Cruces, Bilbao, Spain;
  • Ramón González-Porras J; Department of Hematology, Instituto de Investigación Biomédica de Salamanca-Hospital Universitario de Salamanca, Salamanca, Spain;
  • Hernández-Rivas JM; Department of Hematology, Instituto de Investigación Biomédica de Salamanca-Hospital Universitario de Salamanca, Salamanca, Spain;
  • Fletcher SJ; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom; and.
  • Johnson B; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom; and.
  • Morgan N; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom; and.
  • Ferrer-Marin F; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, Instituto Murciano de Investigaciones Biomédicas-Arrixaca, Murcia, Spain;
  • Vicente V; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, Instituto Murciano de Investigaciones Biomédicas-Arrixaca, Murcia, Spain;
  • Sondek J; Department of Pharmacology, University of North Carolina at Chapel Hill, Chapel Hill, NC.
  • Watson SP; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom; and.
  • Bergmeier W; Department of Biochemistry and Biophysics, University of North Carolina at Chapel Hill, Chapel Hill, NC; McAllister Heart Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC;
  • Rivera J; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, Instituto Murciano de Investigaciones Biomédicas-Arrixaca, Murcia, Spain;
Blood ; 128(9): 1282-9, 2016 09 01.
Article em En | MEDLINE | ID: mdl-27235135
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Plaquetas / Trombastenia / Ativação Plaquetária / Éxons / Mutação de Sentido Incorreto / Proteínas rap1 de Ligação ao GTP / Fatores de Troca do Nucleotídeo Guanina Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male / Middle aged Idioma: En Revista: Blood Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Plaquetas / Trombastenia / Ativação Plaquetária / Éxons / Mutação de Sentido Incorreto / Proteínas rap1 de Ligação ao GTP / Fatores de Troca do Nucleotídeo Guanina Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male / Middle aged Idioma: En Revista: Blood Ano de publicação: 2016 Tipo de documento: Article