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Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Westbury, Sarah K; Canault, Matthias; Greene, Daniel; Bermejo, Emilse; Hanlon, Katharine; Lambert, Michele P; Millar, Carolyn M; Nurden, Paquita; Obaji, Samya G; Revel-Vilk, Shoshana; Van Geet, Chris; Downes, Kate; Papadia, Sofia; Tuna, Salih; Watt, Christopher; Freson, Kathleen; Laffan, Michael A; Ouwehand, Willem H; Alessi, Marie-Christine; Turro, Ernest; Mumford, Andrew D.
  • Westbury SK; School of Clinical Sciences, University of Bristol, Bristol, United Kingdom.
  • Canault M; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Greene D; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.
  • Bermejo E; Centre de Référence sur les Pathologies Plaquettaires, Centre Hospitalier Universitaire Timone, Marseille, France.
  • Hanlon K; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Lambert MP; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Millar CM; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge, United Kingdom.
  • Nurden P; Hematological Research Institute, National Academy of Medicine, Buenos Aires, Argentina.
  • Obaji SG; Department of Haematology, Glasgow Royal Infirmary, Glasgow, United Kingdom.
  • Revel-Vilk S; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Van Geet C; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Downes K; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Papadia S; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Tuna S; Centre for Haematology, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom.
  • Watt C; Imperial College Healthcare National Health Service Trust, London, United Kingdom.
  • Freson K; Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France.
  • Laffan MA; Department of Haematology, School of Medicine, Cardiff University, Cardiff, United Kingdom.
  • Ouwehand WH; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Alessi MC; Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Turro E; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Mumford AD; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.
Blood ; 130(8): 1026-1030, 2017 08 24.
Article en En | MEDLINE | ID: mdl-28637664

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Plaquetas / Factores de Intercambio de Guanina Nucleótido / Hemorragia / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Plaquetas / Factores de Intercambio de Guanina Nucleótido / Hemorragia / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article