A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes

Shen, C; Wang, K; Li, W; Serrano, A; Powers, K; Zhang, CW; Chen, JJ; Sun, M

Chen, JJ (通讯作者),Beckman Res Inst City Hope, Dept Syst Biol, Monrovia, CA 91016 USA.;Sun, M (通讯作者),Childrens Hosp Angeles, Keck Sch Med USC, Dept Pathol & Lab Med, Div Genom Med, Los Angeles, CA 90027 USA.

GENES & DISEASES, 2023; 10 (4): 1165