Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. [electronic resource]
- Nature genetics Jul 2009
- 833-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1546-1718
10.1038/ng.390 doi
Chromosomes, Human, Pair 17 Cytochrome-c Oxidase Deficiency--genetics Electron Transport Complex IV--genetics Genome-Wide Association Study Humans Leigh Disease--genetics Microfilament Proteins--genetics Microsatellite Repeats Mutation