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Is Mitochondrial tRNA(phe) Variant m.593T>C a Synergistically Pathogenic Mutation in Chinese LHON Families with m.11778G>A?

Mitochondrial transfer RNA (mt-tRNA) mutations have been reported to be associated with a variety of diseases. In a previous paper that studied the mtDNA background effect on clinical expression of Leber's hereditary optic neuropathy (LHON) in 182 Chinese families with m.11778G>A, we found a...

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Detalles Bibliográficos
Autores principales:	Zhang, A-Mei, Bandelt, Hans-Jürgen, Jia, Xiaoyun, Zhang, Wen, Li, Shiqiang, Yu, Dandan, Wang, Dong, Zhuang, Xin-Ying, Zhang, Qingjiong, Yao, Yong-Gang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198432/ https://www.ncbi.nlm.nih.gov/pubmed/22039503 http://dx.doi.org/10.1371/journal.pone.0026511

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