Article
Heterogeneity in the processing defect of SLC26A4 mutants.
Journal of medical genetics - 1 Jul 2008
Yoon J S, Park H-J, Yoo S-Y, Namkung W, Jo M J, Koo S K, Park H-Y, Lee W-S, Kim K H, Lee M G
Abstract excerpt
BACKGROUND: Mutations in the SLC26A4 gene are responsible for Pendred syndrome and non-syndromic hearing loss (DFNB4). This study analysed non-synonymous SLC26A4 mutations newly identified in East Asians, as well as three common mutations in Caucasians, to characterise their molecular pathogenic mechanisms and to explore the possibility of rescuing their processing defects. METHODS: A total of 11 non-synonymous...
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