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Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
Armes, Hannah; Bewicke-Copley, Findlay; Rio-Machin, Ana; Di Bella, Doriana; Philippe, Céline; Wozniak, Anna; Tummala, Hemanth; Wang, Jun; Ezponda, Teresa; Prosper, Felipe; Dokal, Inderjeet; Vulliamy, Tom; Kilpivaara, Outi; Wartiovaara-Kautto, Ulla; Fitzgibbon, Jude; Rouault-Pierre, Kevin.
Afiliação
  • Armes H; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
  • Bewicke-Copley F; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
  • Rio-Machin A; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
  • Di Bella D; Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.
  • Philippe C; Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.
  • Wozniak A; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
  • Tummala H; Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK.
  • Wang J; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
  • Ezponda T; Área de Hemato-Oncología, CIMA Universidad de Navarra, Instituto de Investigación Sanitaria de Navarra (IDISNA), Centro de Investigación Biomédica en Red de Cáncer, CIBERONC, Pamplona, Spain.
  • Prosper F; Área de Hemato-Oncología, CIMA Universidad de Navarra, Instituto de Investigación Sanitaria de Navarra (IDISNA), Centro de Investigación Biomédica en Red de Cáncer, CIBERONC, Pamplona, Spain.
  • Dokal I; Clínica Universidad de Navarra, Pamplona, Spain.
  • Vulliamy T; Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK.
  • Kilpivaara O; Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK.
  • Wartiovaara-Kautto U; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Fitzgibbon J; HUSLAB Laboratory of Genetics, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland.
  • Rouault-Pierre K; Department of Medical and Clinical Genetics, Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Br J Haematol ; 199(5): 754-764, 2022 12.
Article em En | MEDLINE | ID: mdl-36156210

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Medula Óssea / Eritropoese Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Br J Haematol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Medula Óssea / Eritropoese Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Br J Haematol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido