The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans

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 recessiv...

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Detalles Bibliográficos
Autores principales: Kim, Ah Reum, Chung, Juyong, Kim, Nayoung K. D., Lee, Chung, Park, Woong-Yang, Oh, Doo-Yi, Choi, Byung Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713216/
https://www.ncbi.nlm.nih.gov/pubmed/29072634
http://dx.doi.org/10.3390/ijms18112246

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713216/
https://www.ncbi.nlm.nih.gov/pubmed/29072634
http://dx.doi.org/10.3390/ijms18112246

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