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Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees.
Sprenkeler, Evelien G G; Tool, Anton T J; Kreft, Iris C; van Alphen, Floris P J; Seneviratne, Suranjith L; Maimaris, Jesmeen; Luqmani, Asad; van Leeuwen, Karin; van Bruggen, Robin; Burns, Siobhan O; Kuijpers, Taco W.
Afiliação
  • Sprenkeler EGG; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands.
  • Tool ATJ; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, AUMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Kreft IC; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands.
  • van Alphen FPJ; Department of Molecular and Cellular Hemostasis, Sanquin Research, Amsterdam, The Netherlands.
  • Seneviratne SL; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Maimaris J; Department of Immunology, Royal Free London NHS Foundation Trust, University College London, Institute of Immunity and Transplantation, London, United Kingdom.
  • Luqmani A; Infection, Immunity and Inflammation Theme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • van Leeuwen K; Department of Haematology, Imperial College NHS Trust, Hammersmith Hospital, London, United Kingdom.
  • van Bruggen R; Department of Research facilities, Sanquin Research, Amsterdam, The Netherlands.
  • Burns SO; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands.
  • Kuijpers TW; Department of Immunology, Royal Free London NHS Foundation Trust, University College London, Institute of Immunity and Transplantation, London, United Kingdom.
Br J Haematol ; 191(5): 930-934, 2020 12.
Article em En | MEDLINE | ID: mdl-32966608
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Linhagem / Receptores de Fator Estimulador de Colônias / Mutação com Perda de Função / Neutropenia / Neutrófilos Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Linhagem / Receptores de Fator Estimulador de Colônias / Mutação com Perda de Função / Neutropenia / Neutrófilos Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article