title: Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
authors.affiliation: Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, Nijmegen, The Netherlands.
authors.forename: Marieke J H
authors.initials: MJ
authors.lastname: Coenen
authors.forename: Lambert P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: Cristina
authors.initials: C
authors.lastname: Ugalde
authors.forename: Marike
authors.initials: M
authors.lastname: Ten Brinke
authors.forename: Leo G J
authors.initials: LG
authors.lastname: Nijtmans
authors.forename: Frans J M
authors.initials: FJ
authors.lastname: Trijbels
authors.forename: Skadi
authors.initials: S
authors.lastname: Beblo
authors.forename: Esther M
authors.initials: EM
authors.lastname: Maier
authors.forename: Ania C
authors.initials: AC
authors.lastname: Muntau
authors.forename: Jan A M
authors.initials: JA
authors.lastname: Smeitink
mesh_terms: D019883:Alkyl and Aryl Transferases / Q000235:genetics*; D015153:Blotting, Western / Q000379:methods; D002478:Cells, Cultured; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D003576:Electron Transport Complex IV / Q000235:genetics / Q000378:metabolism*; D015180:Electrophoresis, Gel, Two-Dimensional / Q000379:methods; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008928:Mitochondria / Q000378:metabolism; D009154:Mutation / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C490115:COX10 protein, human; D003576:Electron Transport Complex IV; D019883:Alkyl and Aryl Transferases