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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-28671271
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Point Mutation / Mitochondrial Proteins / Electron Transport Complex I Type of study: Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: Clin Genet Year: 2018 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Point Mutation / Mitochondrial Proteins / Electron Transport Complex I Type of study: Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: Clin Genet Year: 2018 Document type: Article Affiliation country: Country of publication: