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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Autores principales: A-Mei Zhang, Hans-Jürgen Bandelt, Xiaoyun Jia, Wen Zhang, Shiqiang Li, Dandan Yu, Dong Wang, Xin-Ying Zhuang, Qingjiong Zhang, Yong-Gang Yao
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2011
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Acceso en línea:https://doaj.org/article/6c0fe2eead344157a12c7d53c6b77be5
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