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Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Sivapalaratnam, Suthesh; Westbury, Sarah K; Stephens, Jonathan C; Greene, Daniel; Downes, Kate; Kelly, Anne M; Lentaigne, Claire; Astle, William J; Huizinga, Eric G; Nurden, Paquita; Papadia, Sofia; Peerlinck, Kathelijne; Penkett, Christopher J; Perry, David J; Roughley, Catherine; Simeoni, Ilenia; Stirrups, Kathleen; Hart, Daniel P; Tait, R Campbell; Mumford, Andrew D; Laffan, Michael A; Freson, Kathleen; Ouwehand, Willem H; Kunishima, Shinji; Turro, Ernest.
Afiliación
  • Sivapalaratnam S; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Westbury SK; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Stephens JC; Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom.
  • Greene D; School of Clinical Sciences, University of Bristol, Bristol, United Kingdom.
  • Downes K; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Kelly AM; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Lentaigne C; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Astle WJ; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Huizinga EG; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Nurden P; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Papadia S; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Peerlinck K; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Penkett CJ; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Perry DJ; Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom.
  • Roughley C; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom.
  • Simeoni I; Imperial College Healthcare National Health Service Trust, London, United Kingdom.
  • Stirrups K; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Hart DP; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Tait RC; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Mumford AD; Crystal and Structural Chemistry, Department of Chemistry, Faculty of Science, Bijvoet Center for Biomolecular Research, Utrecht University, Utrecht, The Netherlands.
  • Laffan MA; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Freson K; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Ouwehand WH; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.
  • Kunishima S; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Turro E; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom.
Blood ; 129(4): 520-524, 2017 01 26.
Article en En | MEDLINE | ID: mdl-28064200
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trombocitopenia / Plaquetas / Complejo GPIb-IX de Glicoproteína Plaquetaria / Hemorragia / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Blood Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trombocitopenia / Plaquetas / Complejo GPIb-IX de Glicoproteína Plaquetaria / Hemorragia / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Blood Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos