A novel mutation located in the intermembrane space domain of AFG3L2 causes dominant optic atrophy through decreasing the stability of the encoded protein

Dominant optic atrophy (DOA) is the most common hereditary optic neuropathy. Although DOA is caused by mutations in several genes, there are still many cases that have not been diagnosed or misdiagnosed. Herein, we present a large family of 11 patients with DOA. To identify potential pathogenic muta...

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Detalles Bibliográficos
Autores principales: Yang, Lin, Jin, Xiuxiu, Li, Ya, Guo, Qingge, Yang, Mingzhu, You, Ya, Yao, Shun, Zhang, Xiaoli, Wang, Zhongfeng, Lei, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9378676/
https://www.ncbi.nlm.nih.gov/pubmed/35970831
http://dx.doi.org/10.1038/s41420-022-01160-9

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