An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations

Several homoplasmic pathologic mutations in mitochondrial DNA, such as those causing Leber hereditary optic neuropathy or non-syndromic hearing loss, show incomplete penetrance. Therefore, other elements must modify their pathogenicity. Discovery of these modifying factors is not an easy task becaus...

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Detalles Bibliográficos
Autores principales: Emperador, Sonia, Pacheu-Grau, David, Bayona-Bafaluy, M. Pilar, Garrido-Pérez, Nuria, Martín-Navarro, Antonio, López-Pérez, Manuel J., Montoya, Julio, Ruiz-Pesini, Eduardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2015
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294204/
https://www.ncbi.nlm.nih.gov/pubmed/25642242
http://dx.doi.org/10.3389/fgene.2014.00469

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294204/
https://www.ncbi.nlm.nih.gov/pubmed/25642242
http://dx.doi.org/10.3389/fgene.2014.00469

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