Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients

BACKGROUND: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with gender biased and incomplete penetrance. The majority of LHON patients are caused by one of the three primary mutations (m.3460G > A, m.11778G > A and m.14484T > C). Rare pathogenic mutations have been occ...

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Detalles Bibliográficos
Autores principales: Zhang, A-Mei, Jia, Xiaoyun, Guo, Xiangming, Zhang, Qingjiong, Yao, Yong-Gang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3372436/
https://www.ncbi.nlm.nih.gov/pubmed/22400981
http://dx.doi.org/10.1186/1479-5876-10-43

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