Diodato, Daria
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. [electronic resource]
- Human mutation Aug 2014
- 983-9 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.22590 doi
Cell Line
Child
DNA, Mitochondrial--genetics
Electron Transport Complex I--genetics
Fibroblasts--cytology
HLA Antigens--genetics
Heterozygote
Homozygote
Humans
Infant
Isoenzymes--genetics
Male
Mitochondria--enzymology
Mitochondrial Encephalomyopathies--enzymology
Mutation
Polymorphism, Genetic
RNA, Messenger--genetics
RNA, Transfer, Thr--genetics
RNA, Transfer, Val--genetics
Saccharomyces cerevisiae--genetics
Threonine-tRNA Ligase--genetics
Valine-tRNA Ligase--genetics