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

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

Short communication | 更新时间：2023-08-29

- A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes
- Genes & Diseases Vol. 10, Issue 4, (2023)
- 作者机构：
  
  1. Division of Neurology, Children's Hospital Los Angeles,CA,Los Angeles,USA,90027
  2. Department of Systems Biology, Beckman Research Institute of City of Hope, Monrovia,CA,USA,91016
  3. Division of Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles/Keck School of Medicine of USC,CA,Los Angeles,USA,90027
  4. Division of Medical Genetics, Department of Pediatrics, Children’s Hospital Los Angeles/Keck School of Medicine of USC,CA,Los Angeles,USA,90027
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2022.09.011
  CLC：
- Published：2023，
  
  Published Online：1 July 2023，
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Chao Shen, Kitty Wang, Wei Li, et al. A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes. [J]. Genes & Diseases 10(4).(2023)
DOI：

Chao Shen, Kitty Wang, Wei Li, et al. A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes. [J]. Genes & Diseases 10(4).(2023) DOI： 10.1016/j.gendis.2022.09.011.

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