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Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins

The homoplasmic mitochondrial A1555G mutation in the 12S rRNA gene leads to a mitochondrial translation disorder associated with deafness. The absence of disease in non-cochlear tissues in all patients, and in the cochlea in some patients, is not well understood. We used a system-based approach, inc...

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Bibliografische gegevens
Hoofdauteurs: Bykhovskaya, Yelena, Mengesha, Emebet, Fischel-Ghodsian, Nathan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2009
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2728627/
https://ncbi.nlm.nih.gov/pubmed/19482502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2009.05.003
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