Article
The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.
International journal of molecular sciences - 26 Oct 2017
Kim Ah Reum, Chung Juyong, Kim Nayoung K D, Lee Chung, Park Woong-Yang, Oh Doo-Yi, Choi Byung Yoon
Abstract excerpt
We performed targeted re-sequencing to identify the genetic etiology of early-onset postlingual deafness and encountered a frequent TMPRSS3 allele harboring two variants in a cis configuration. We aimed to evaluate the pathogenicity of the allele. Among 88 cochlear implantees with autosomal recessive non-syndromic hearing loss, subjects with GJB2 and SLC26A4 mutations were excluded. Thirty-one probands...
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