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Differences in the Pathogenicity of the p.H723R Mutation of the Common Deafness-Associated SLC26A4 Gene in Humans and Mice

Mutations in the SLC26A4 gene are a common cause of human hereditary hearing impairment worldwide. Previous studies have demonstrated that different SLC26A4 mutations have different pathogenetic mechanisms. By using a genotype-driven approach, we established a knock-in mouse model (i.e., Slc26a4(tm2...

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Detalles Bibliográficos
Autores principales: Lu, Ying-Chang, Wu, Chen-Chi, Yang, Ting-Hua, Lin, Yin-Hung, Yu, I-Shing, Lin, Shu-Wha, Chang, Qing, Lin, Xi, Wong, Jau-Min, Hsu, Chuan-Jen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3670936/
https://www.ncbi.nlm.nih.gov/pubmed/23755160
http://dx.doi.org/10.1371/journal.pone.0064906