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 |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Public Library of Science (PLoS)
2011
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Materias: | |
Acceso en línea: | https://doaj.org/article/6c0fe2eead344157a12c7d53c6b77be5 |
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