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A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Lim, Sze Chern; Smith, Katherine R; Stroud, David A; Compton, Alison G; Tucker, Elena J; Dasvarma, Ayan; Gandolfo, Luke C; Marum, Justine E; McKenzie, Matthew; Peters, Heidi L; Mowat, David; Procopis, Peter G; Wilcken, Bridget; Christodoulou, John; Brown, Garry K; Ryan, Michael T; Bahlo, Melanie; Thorburn, David R.
Afiliación
  • Lim SC; Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Smith KR; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Stroud DA; Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Melbourne, VIC 3086, Australia.
  • Compton AG; Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Tucker EJ; Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Dasvarma A; Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Gandolfo LC; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia; Department of Mathematics and Statistics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Marum JE; Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • McKenzie M; Centre for Genetic Diseases, Monash Institute of Medical Research, Melbourne, VIC 3168, Australia.
  • Peters HL; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Mowat D; Department of Medical Genetics, Sydney Children's Hospital, School of Women's and Children's Health, University of NSW, Sydney, NSW 2031, Australia.
  • Procopis PG; Department of Neurology, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics & Child Health, University of Sydney, Sydney, NSW 2006, Australia.
  • Wilcken B; Discipline of Paediatrics & Child Health, University of Sydney, Sydney, NSW 2006, Australia.
  • Christodoulou J; Discipline of Paediatrics & Child Health, University of Sydney, Sydney, NSW 2006, Australia; Genetic Metabolic Disorders Research Unit, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2006, Australia.
  • Brown GK; Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK.
  • Ryan MT; Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Melbourne, VIC 3086, Australia.
  • Bahlo M; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia; Department of Mathematics and Statistics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Thorburn DR; Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia. Electronic address: da
Am J Hum Genet ; 94(2): 209-22, 2014 Feb 06.
Article en En | MEDLINE | ID: mdl-24462369
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Leigh / Efecto Fundador / Deficiencia de Citocromo-c Oxidasa / Proteínas Mitocondriales Tipo de estudio: Etiology_studies / Prognostic_studies País/Región como asunto: Asia Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Leigh / Efecto Fundador / Deficiencia de Citocromo-c Oxidasa / Proteínas Mitocondriales Tipo de estudio: Etiology_studies / Prognostic_studies País/Región como asunto: Asia Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article