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Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.
Helman, Guy; Compton, Alison G; Hock, Daniella H; Walkiewicz, Marzena; Brett, Gemma R; Pais, Lynn; Tan, Tiong Y; De Paoli-Iseppi, Ricardo; Clark, Michael B; Christodoulou, John; White, Susan M; Thorburn, David R; Stroud, David A; Stark, Zornitza; Simons, Cas.
Afiliación
  • Helman G; Murdoch Children's Research Institute, Royal Children's Hospital, Victoria, Australia.
  • Compton AG; Institute for Molecular Bioscience, The University of Queensland, Queensland, Australia.
  • Hock DH; Murdoch Children's Research Institute, Royal Children's Hospital, Victoria, Australia.
  • Walkiewicz M; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Brett GR; Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Victoria, Australia.
  • Pais L; Murdoch Children's Research Institute, Royal Children's Hospital, Victoria, Australia.
  • Tan TY; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • De Paoli-Iseppi R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Victoria, Australia.
  • Clark MB; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Christodoulou J; Murdoch Children's Research Institute, Royal Children's Hospital, Victoria, Australia.
  • White SM; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Victoria, Australia.
  • Stroud DA; Centre for Stem Cell Systems, The University of Melbourne, Victoria, Australia.
  • Stark Z; Centre for Stem Cell Systems, The University of Melbourne, Victoria, Australia.
  • Simons C; Murdoch Children's Research Institute, Royal Children's Hospital, Victoria, Australia.
Hum Mutat ; 42(1): 19-24, 2021 01.
Article en En | MEDLINE | ID: mdl-33169436
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades Mitocondriales / Proteómica / NADH Deshidrogenasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Australia
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades Mitocondriales / Proteómica / NADH Deshidrogenasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Australia