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.
Lamminen
T
T
Majander
A
A
Juvonen
V
V
Wikström
M
M
Aula
P
P
Nikoskelainen
E
E
Savontous
M L
ML
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*
D004272:DNA, Mitochondrial; C024413:endodeoxyribonuclease MboII; D015252:Deoxyribonucleases, Type II Site-Specific; D006180:Proton-Translocating ATPases