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SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)

Autosomal dominant non-syndromic hearing loss (AD-NSHL) is one of the most common genetic diseases in human and is well-known for the considerable genetic heterogeneity. In this study, we utilized whole exome sequencing (WES) and linkage analysis for direct genetic diagnosis in AD-NSHL. The Korean f...

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Detalles Bibliográficos
Autores principales:	Kim, Hee-Jin, Won, Hong-Hee, Park, Kyoung-Jin, Hong, Sung Hwa, Ki, Chang-Seok, Cho, Sang Sun, Venselaar, Hanka, Vriend, Gert, Kim, Jong-Won
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832514/ https://www.ncbi.nlm.nih.gov/pubmed/24260153 http://dx.doi.org/10.1371/journal.pone.0079063

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