Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice.

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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Bibliographic Details
Main Authors: Ying-Chang Lu, Chen-Chi Wu, Ting-Hua Yang, Yin-Hung Lin, I-Shing Yu, Shu-Wha Lin, Qing Chang, Xi Lin, Jau-Min Wong, Chuan-Jen Hsu
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3670936?pdf=render

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http://europepmc.org/articles/PMC3670936?pdf=render

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