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Study of a Brazilian Family Presenting Non-syndromic hearing loss with mitochondrial inheritance
We hereby report on the audiological and genetic findings in individuals from a Brazilian family, with the following mitochondrial mutation A1555G in the 12SrRNA gene (MT-RNR-1). Nine individuals underwent speech, audiologic (tonal audiometry and logoaudiometry) and genetic evaluations. Eight indivi...
Autores principales: | Pupo, Altair Cadrobbi, Pirana, Sulene, Spinelli, Mauro, Lezirovitz, Karina, Netto, Regina C. Mingroni, Macedo, Lisandra S. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9445942/ https://www.ncbi.nlm.nih.gov/pubmed/19082364 http://dx.doi.org/10.1016/S1808-8694(15)31392-6 |
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