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Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.
Miller, David K; Menezes, Minal J; Simons, Cas; Riley, Lisa G; Cooper, Sandra T; Grimmond, Sean M; Thorburn, David R; Christodoulou, John; Taft, Ryan J.
Afiliación
  • Miller DK; Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.
  • Menezes MJ; Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Sydney, Westmead New South Wales, Australia; Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Camperdown New South Wales, Australia.
  • Simons C; Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.
  • Riley LG; Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Sydney, Westmead New South Wales, Australia.
  • Cooper ST; Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Camperdown New South Wales, Australia; Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Grimmond SM; Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.
  • Thorburn DR; Murdoch Childrens Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Christodoulou J; Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Sydney, Westmead New South Wales, Australia; Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Camperdown New South Wales, Australia; Discipline of Genetic Medi
  • Taft RJ; Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia; Departments of Integrative Systems Biology and Pediatrics, George Washington University School of Medicine, Washington, D.C., United States of America.
PLoS One ; 9(8): e104879, 2014.
Article en En | MEDLINE | ID: mdl-25118196
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Mitocondrial / Enfermedad de Leigh / Mutación Missense / Complejo I de Transporte de Electrón Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2014 Tipo del documento: Article País de afiliación: Australia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Mitocondrial / Enfermedad de Leigh / Mutación Missense / Complejo I de Transporte de Electrón Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2014 Tipo del documento: Article País de afiliación: Australia