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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Detalhes bibliográficos
Publicado no:Balkan J Med Genet
Main Authors: Ding, Y, Xia, B-H, Teng, Y-S, Zhuo, G-C, Leng, J-H
Formato: Artigo
Idioma:Inglês
Publicado em: Sciendo 2017
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5972502/
https://ncbi.nlm.nih.gov/pubmed/29876232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/bjmg-2017-0025
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