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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2011
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Materias: | |
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 |