title: A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.
authors.forename: T
authors.initials: T
authors.lastname: Lamminen
authors.forename: A
authors.initials: A
authors.lastname: Majander
authors.forename: V
authors.initials: V
authors.lastname: Juvonen
authors.forename: M
authors.initials: M
authors.lastname: Wikström
authors.forename: P
authors.initials: P
authors.lastname: Aula
authors.forename: E
authors.initials: E
authors.lastname: Nikoskelainen
authors.forename: M L
authors.initials: ML
authors.lastname: Savontous
mesh_terms: D000328:Adult; D000368:Aged; D004272:DNA, Mitochondrial / Q000235:genetics / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D005387:Finland / Q000453:epidemiology; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D010085:Oxidative Phosphorylation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D006180:Proton-Translocating ATPases / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; C024413:endodeoxyribonuclease MboII; D015252:Deoxyribonucleases, Type II Site-Specific; D006180:Proton-Translocating ATPases