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Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.

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Title: Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Authors: Lentaigne C; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom.; Imperial College Healthcare National Health Service (NHS) Trust, London, United Kingdom.; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Greene D; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom., Sivapalaratnam S; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom., Favier R; Assistance Publique-Hôpitaux de Paris, French Reference Center for Inherited Platelet Disorders, Armand Trousseau Children's Hospital, Paris, France.; INSERM UMR 1170, Gustave Roussy Institute, Villejuif, France., Seyres D; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Thys C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium., Grassi L; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Mangles S; Department of Haematology, Hampshire Hospitals NHS Foundation Trust, Basingstoke, United Kingdom., Sibson K; Haemophilia, Haemostasis and Thrombosis Centre, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom., Stubbs M; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom., Burden F; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Bordet JC; Hemostasis Laboratory, Biology Center, Hospices Civils de Lyon, Bron, France., Armari-Alla C; Paediatric Oncology Hematology Unit, Michalon Hospital, La Tronche, France., Erber W; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; School of Biomedical Science, University of Western Australia, Crawley, WA, Australia.; PathWest Laboratory Medicine, Nedlands, WA, Australia., Farrow S; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Gleadall N; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Gomez K; Katharine Dormandy Haemophilia Centre and Thrombosis Unit, The Royal Free Hospital, London, United Kingdom., Megy K; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Papadia S; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Penkett CJ; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Sims MC; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Stefanucci L; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Stephens JC; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Read RJ; Department of Haematology, Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Stirrups KE; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Ouwehand WH; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom; and., Laffan MA; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom.; Imperial College Healthcare National Health Service (NHS) Trust, London, United Kingdom., Frontini M; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; British Heart Foundation Centre of Excellence, Cambridge Biomedical Campus, Cambridge, United Kingdom., Freson K; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium., Turro E; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.
Corporate Authors: NIHR BioResource
Source: Blood [Blood] 2019 Dec 05; Vol. 134 (23), pp. 2070-2081.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE
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