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NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.
Baertling, F; Sánchez-Caballero, L; van den Brand, M A M; Fung, C-W; Chan, S H-S; Wong, V C-N; Hellebrekers, D M E; de Coo, I F M; Smeitink, J A M; Rodenburg, R J T; Nijtmans, L G J.
Afiliação
  • Baertling F; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Sánchez-Caballero L; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.
  • van den Brand MAM; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Fung CW; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Chan SH; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, Hong Kong.
  • Wong VC; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, Hong Kong.
  • Hellebrekers DME; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, Hong Kong.
  • de Coo IFM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, the Netherlands.
  • Smeitink JAM; Department of Neurology, Erasmus MC, Rotterdam, the Netherlands.
  • Rodenburg RJT; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Nijtmans LGJ; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Clin Genet ; 93(1): 111-118, 2018 Jan.
Article em En | MEDLINE | ID: mdl-28671271
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação Puntual / Proteínas Mitocondriais / Complexo I de Transporte de Elétrons Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação Puntual / Proteínas Mitocondriais / Complexo I de Transporte de Elétrons Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article