Published Date: July 3, 2023

Full Text Article

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


Authors: Chao Shen, Kitty Wang, Wei Li, Alvaro Serrano, Kelly Powers, Chengwan Zhang, Jianjun Chen, Miao Sun


Genes Dis. 2022 Oct 6;10(4):1165-1168. doi: 10.1016/j.gendis.2022.09.011. eCollection 2023 Jul.

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PMID: 37397562DOI: 10.1016/j.gendis.2022.09.011PMC: PMC10311045