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Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Lentaigne, Claire; Greene, Daniel; Sivapalaratnam, Suthesh; Favier, Remi; Seyres, Denis; Thys, Chantal; Grassi, Luigi; Mangles, Sarah; Sibson, Keith; Stubbs, Matthew; Burden, Frances; Bordet, Jean-Claude; Armari-Alla, Corinne; Erber, Wendy; Farrow, Samantha; Gleadall, Nicholas; Gomez, Keith; Megy, Karyn; Papadia, Sofia; Penkett, Christopher J; Sims, Matthew C; Stefanucci, Luca; Stephens, Jonathan C; Read, Randy J; Stirrups, Kathleen E; Ouwehand, Willem H; Laffan, Michael A; Frontini, Mattia; Freson, Kathleen; Turro, Ernest.
  • Lentaigne C; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom.
  • Greene D; Imperial College Healthcare National Health Service (NHS) Trust, London, United Kingdom.
  • Sivapalaratnam S; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Favier R; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Seyres D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Thys C; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Grassi L; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Mangles S; Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom.
  • Sibson K; Assistance Publique-Hôpitaux de Paris, French Reference Center for Inherited Platelet Disorders, Armand Trousseau Children's Hospital, Paris, France.
  • Stubbs M; INSERM UMR 1170, Gustave Roussy Institute, Villejuif, France.
  • Burden F; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Bordet JC; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Armari-Alla C; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Erber W; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.
  • Farrow S; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Gleadall N; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Gomez K; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Megy K; Department of Haematology, Hampshire Hospitals NHS Foundation Trust, Basingstoke, United Kingdom.
  • Papadia S; Haemophilia, Haemostasis and Thrombosis Centre, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom.
  • Penkett CJ; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom.
  • Sims MC; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Stefanucci L; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Stephens JC; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Read RJ; Hemostasis Laboratory, Biology Center, Hospices Civils de Lyon, Bron, France.
  • Stirrups KE; Paediatric Oncology Hematology Unit, Michalon Hospital, La Tronche, France.
  • Ouwehand WH; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Laffan MA; School of Biomedical Science, University of Western Australia, Crawley, WA, Australia.
  • Frontini M; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Freson K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Turro E; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.
Blood ; 134(23): 2070-2081, 2019 12 05.
Article en En | MEDLINE | ID: mdl-31217188
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trombocitopenia / Plaquetas / Mutación de Línea Germinal / Mutación Missense / Trombopoyesis / Factor de Transcripción Ikaros / Enfermedades Genéticas Congénitas Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trombocitopenia / Plaquetas / Mutación de Línea Germinal / Mutación Missense / Trombopoyesis / Factor de Transcripción Ikaros / Enfermedades Genéticas Congénitas Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article