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Molecular and Clinical Characterization of the Variable Phenotype in Korean Families with Hearing Loss Associated with the Mitochondrial A1555G Mutation

Hearing loss, which is genetically heterogeneous, can be caused by mutations in the mitochondrial DNA (mtDNA). The A1555G mutation of the 12S ribosomal RNA (rRNA) gene in the mtDNA has been associated with both aminoglycoside-induced and non-syndromic hearing loss in many ethnic populations. Here, w...

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Detalles Bibliográficos
Autores principales: Bae, Jae Woong, Kim, Dong-Bin, Choi, Jae Young, Park, Hong-Joon, Lee, Jong Dae, Hur, Dong Gu, Bae, Seung-Hyun, Jung, Da Jung, Lee, Sang Heun, Kim, Un-Kyung, Lee, Kyu Yup
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412860/
https://www.ncbi.nlm.nih.gov/pubmed/22879993
http://dx.doi.org/10.1371/journal.pone.0042463