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Aminoglycoside-associated nonsyndromic deafness and speech disorder in mitochondrial A1555G mutation in a family: A case report
RATIONALE: Mitochondrial DNA mutations have been associated with many maternal inherited diseases. A1555G mutation in mtDNA effects the gene code for rRNA, resulting in the structural change of human ribosome rending it susceptible to binding of the common antibiotic, aminoglycosides. Such mutation...
Autores principales: | Ou, Yang-Hao, Chen, Andy Wei-Ge, Fan, Jun-Yang, Cheng, Wen-Ling, Lin, Ta-Tsung, Chen, Mu-Kuan, Liu, Chin-San |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211905/ https://www.ncbi.nlm.nih.gov/pubmed/30335006 http://dx.doi.org/10.1097/MD.0000000000012878 |
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