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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.
Nafisinia, Michael; Riley, Lisa G; Gold, Wendy A; Bhattacharya, Kaustuv; Broderick, Carolyn R; Thorburn, David R; Simons, Cas; Christodoulou, John.
Afiliación
  • Nafisinia M; Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Riley LG; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
  • Gold WA; Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Bhattacharya K; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
  • Broderick CR; Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Thorburn DR; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
  • Simons C; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
  • Christodoulou J; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
PLoS One ; 12(6): e0178125, 2017.
Article en En | MEDLINE | ID: mdl-28594869
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Glicina-ARNt Ligasa / Mitocondrias / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2017 Tipo del documento: Article País de afiliación: Australia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Glicina-ARNt Ligasa / Mitocondrias / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2017 Tipo del documento: Article País de afiliación: Australia