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A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes
Autores principales: | Shen, Chao, Wang, Kitty, Li, Wei, Serrano, Alvaro, Powers, Kelly, Zhang, Chengwan, Chen, Jianjun, Sun, Miao |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Chongqing Medical University
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10311045/ https://www.ncbi.nlm.nih.gov/pubmed/37397562 http://dx.doi.org/10.1016/j.gendis.2022.09.011 |
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