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The Mitochondrial COI/tRNA(SER(UCN)) G7444A Mutation May Be Associated with Hearing Impairment in a Han Chinese Family

Variations in mitochondrial genome have been found to be associated with hearing loss. Of these, the mitochondrial 12S rRNA and tRNA(Ser(UCN)) are the hot-spots for pathogenic variants associated with deafness. To understand the putative role of mitochondrial DNA (mtDNA) variants in hearing loss, we...

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Detalles Bibliográficos
Autores principales: Ding, Y, Xia, B-H, Teng, Y-S, Zhuo, G-C, Leng, J-H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972502/
https://www.ncbi.nlm.nih.gov/pubmed/29876232
http://dx.doi.org/10.1515/bjmg-2017-0025