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Molecular and clinical characterisation of three Spanish families with maternally inherited non‐syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA gene

Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non‐syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A→G is the most prevalent in all populations tested so...

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Autori principali: Rodríguez‐Ballesteros, M, Olarte, M, Aguirre, L A, Galán, F, Galán, R, Vallejo, L A, Navas, C, Villamar, M, Moreno‐Pelayo, M A, Moreno, F, del Castillo, I
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2006
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563187/
https://ncbi.nlm.nih.gov/pubmed/17085680
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.042440
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