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Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.
van Oorschot, Rinske; Marneth, Anna E; Bergevoet, Saskia M; van Bergen, Maaike G J M; Peerlinck, Kathelijne; Lentaigne, Claire E; Millar, Carolyn M; Westbury, Sarah K; Favier, Remi; Erber, Wendy N; Turro, Ernest; Jansen, Joop H; Ouwehand, Willem H; McKinney, Harriet L; Downes, Kate; Freson, Kathleen; van der Reijden, Bert A.
Affiliation
  • van Oorschot R; Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc, Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, the Netherlands.
  • Marneth AE; Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc, Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, the Netherlands.
  • Bergevoet SM; Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc, Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, the Netherlands.
  • van Bergen MGJM; Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc, Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, the Netherlands.
  • Peerlinck K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.
  • Lentaigne CE; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, UK.
  • Millar CM; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, UK.
  • Westbury SK; Imperial College Healthcare NHS Trust, London, UK.
  • Favier R; School of Cellular and Molecular Medicine, University of Bristol, UK.
  • Erber WN; Service d'Hematologie Biologique, Assistance-Publique Hôpitaux de Paris, Centre de Référence des Pathologies Plaquettaires, Hôpital Armand Trousseau, Paris, France.
  • Turro E; School of Biomedical Sciences, University of Western Australia, Crawley, Western Australia, Australia.
  • Jansen JH; PathWest Laboratory Medicine, Nedlands, Western Australia, Australia.
  • Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
  • McKinney HL; National Health Service Blood and Transplant (NHSBT), Cambridge Biomedical Campus, UK.
  • Downes K; Medical Research Council Biostatistics Unit, University of Cambridge, Forvie Site, Cambridge Biomedical Campus, UK.
  • Freson K; Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc, Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, the Netherlands.
  • van der Reijden BA; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
Haematologica ; 104(6): e260-e264, 2019 06.
Article in En | MEDLINE | ID: mdl-30573501
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Full text: 1 Database: MEDLINE Main subject: Repressor Proteins / Proto-Oncogene Proteins / Mutation, Missense / Disease Susceptibility / Hemorrhagic Disorders Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Haematologica Year: 2019 Type: Article Affiliation country: Netherlands
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Full text: 1 Database: MEDLINE Main subject: Repressor Proteins / Proto-Oncogene Proteins / Mutation, Missense / Disease Susceptibility / Hemorrhagic Disorders Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Haematologica Year: 2019 Type: Article Affiliation country: Netherlands