The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Hum Mol Genet
; 25(3): 584-96, 2016 Feb 01.
Article
in En
| MEDLINE
| ID: mdl-26647310
Full text:
1
Database:
MEDLINE
Main subject:
Tyrosine-tRNA Ligase
/
DNA, Mitochondrial
/
Optic Atrophy, Hereditary, Leber
/
Mitochondrial Proteins
/
Mitochondria
/
Mutation
Type of study:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Language:
En
Journal:
Hum Mol Genet
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Year:
2016
Type:
Article
Affiliation country:
China