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Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.
Nafisinia, Michael; Sobreira, Nara; Riley, Lisa; Gold, Wendy; Uhlenberg, Birgit; Weiß, Claudia; Boehm, Corinne; Prelog, Kristina; Ouvrier, Robert; Christodoulou, John.
  • Nafisinia M; Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, Sydney, NSW, Australia.
  • Sobreira N; Discipline of Paediatrics &Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
  • Riley L; Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Gold W; Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, Sydney, NSW, Australia.
  • Uhlenberg B; Discipline of Paediatrics &Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
  • Weiß C; Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, Sydney, NSW, Australia.
  • Boehm C; Discipline of Paediatrics &Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
  • Prelog K; Department of Neuropediatrics, Charité Medical School, Berlin, Germany.
  • Ouvrier R; Department of Neuropediatrics, Charité Medical School, Berlin, Germany.
  • Christodoulou J; Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Eur J Hum Genet ; 25(10): 1134-1141, 2017 10.
Article en En | MEDLINE | ID: mdl-28905880
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Arginino-ARNt Ligasa / Eliminación de Gen / Mutación Missense / Enfermedad de Pelizaeus-Merzbacher Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Arginino-ARNt Ligasa / Eliminación de Gen / Mutación Missense / Enfermedad de Pelizaeus-Merzbacher Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article