Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia.
Sahashi
K
K
Yoneda
M
M
Ohno
K
K
Tanaka
M
M
Ibi
T
T
Sahashi
K
K
D000328:Adult; D001483:Base Sequence; D002470:Cell Survival; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D004579:Electron Transport / Q000235:genetics; D005260:Female; D005347:Fibroblasts; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D009690:Nucleic Acid Conformation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics* / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D010100:Oxygen / Q000378:metabolism; D010101:Oxygen Consumption / Q000235:genetics; D010641:Phenotype; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012365:RNA, Transfer, Tyr / Q000235:genetics*
D000077278:RNA, Mitochondrial; D012365:RNA, Transfer, Tyr; D012313:RNA; D010100:Oxygen