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Autor:
Lauren Friedrich, Hieu Sy Vu, Chao Xing, Kimberly M. Nugent, Ralph J. DeBerardinis, Nick V. Grishin, Chendong Yang, Elizabeth Roeder, Jimin Pei, Ashley Solmonson, Chunxiao Pan, Bookyung Ko, Min Ni, Ling Cai
Publikováno v:
J Inherit Metab Dis
Glutamyl-tRNA synthetase 2 (encoded by EARS2) is a mitochondrial aminoacyl-tRNA synthetase required to translate the 13 subunits of the electron transport chain encoded by the mitochondrial DNA. Pathogenic EARS2 variants cause combined oxidative phos