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Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Rius, Rocio; Riley, Lisa G; Guo, Yiran; Menezes, Minal; Compton, Alison G; Van Bergen, Nicole J; Gayevskiy, Velimir; Cowley, Mark J; Cummings, Beryl B; Adams, Louisa; Ellaway, Carolyn; Thorburn, David R; Hakonarson, Hakon; Christodoulou, John.
Afiliación
  • Rius R; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Riley LG; Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia.
  • Guo Y; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, USA.
  • Menezes M; Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Compton AG; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Van Bergen NJ; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Cowley MJ; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia; St Vincent's Clinical School, UNSW Sydney, Sydney, Australia; Children's Cancer Institute, Kensington, Australia.
  • Cummings BB; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, USA.
  • Adams L; Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Ellaway C; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia; Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Thorburn DR; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, USA.
  • Christodoulou J; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address: john.christodoulou@mcri.edu.au.
Mol Genet Metab ; 126(1): 77-82, 2019 01.
Article en En | MEDLINE | ID: mdl-30558828
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Variación Genética / Intrones / Fallo Hepático Agudo / Proteínas de Neoplasias Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2019 Tipo del documento: Article País de afiliación: Australia
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Variación Genética / Intrones / Fallo Hepático Agudo / Proteínas de Neoplasias Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2019 Tipo del documento: Article País de afiliación: Australia