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A novel cause of DKC1-related bone marrow failure: Partial deletion of the 3' untranslated region.
Arthur, Jonathan W; Pickett, Hilda A; Barbaro, Pasquale M; Kilo, Tatjana; Vasireddy, Raja S; Beilharz, Traude H; Powell, David R; Hackett, Emma L; Bennetts, Bruce; Curtin, Julie A; Jones, Kristi; Christodoulou, John; Reddel, Roger R; Teo, Juliana; Bryan, Tracy M.
Afiliación
  • Arthur JW; Children's Medical Research Institute Faculty of Medicine and Health, University of Sydney Westmead New South Wales Australia.
  • Pickett HA; Children's Medical Research Institute Faculty of Medicine and Health, University of Sydney Westmead New South Wales Australia.
  • Barbaro PM; Children's Medical Research Institute Faculty of Medicine and Health, University of Sydney Westmead New South Wales Australia.
  • Kilo T; Haematology Department Children's Hospital at Westmead Westmead New South Wales Australia.
  • Vasireddy RS; Haematology Department Children's Hospital at Westmead Westmead New South Wales Australia.
  • Beilharz TH; Monash Biomedicine Discovery Institute Department of Biochemistry and Molecular Biology, Monash University Clayton Victoria Australia.
  • Powell DR; Monash Bioinformatics Platform Monash University Clayton Victoria Australia.
  • Hackett EL; Department of Molecular Genetics Children's Hospital Westmead Westmead New South Wales Australia.
  • Bennetts B; Department of Molecular Genetics Children's Hospital Westmead Westmead New South Wales Australia.
  • Curtin JA; Disciplines of Genetic Medicine and Child and Adolescent Health, Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia.
  • Jones K; Haematology Department Children's Hospital at Westmead Westmead New South Wales Australia.
  • Christodoulou J; Disciplines of Genetic Medicine and Child and Adolescent Health, Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia.
  • Reddel RR; Department of Clinical Genetics Children's Hospital Westmead Westmead New South Wales Australia.
  • Teo J; Disciplines of Genetic Medicine and Child and Adolescent Health, Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia.
  • Bryan TM; Murdoch Children's Research Institute and Department of Paediatrics Melbourne Medical School Parkville Victoria Australia.
EJHaem ; 2(2): 157-166, 2021 May.
Article en En | MEDLINE | ID: mdl-35845273

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: EJHaem Año: 2021 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: EJHaem Año: 2021 Tipo del documento: Article