Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA

Postlingual progressive hearing loss, affecting primarily the high frequencies, is the clinical finding in most cases of autosomal dominant nonsyndromic hearing loss (ADNSHL). The molecular genetic etiology of ADNSHL is extremely heterogeneous. We applied whole-exome sequencing to reveal the genetic...

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Detalles Bibliográficos
Autores principales: Choi, Byung Yoon, Kim, Jiwoong, Chung, Juyong, Kim, Ah Reum, Mun, Sue Jean, Kang, Seong Il, Lee, Sang-Heon, Kim, Namshin, Oh, Seung-Ha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016231/
https://www.ncbi.nlm.nih.gov/pubmed/24816743
http://dx.doi.org/10.1371/journal.pone.0097040

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016231/
https://www.ncbi.nlm.nih.gov/pubmed/24816743
http://dx.doi.org/10.1371/journal.pone.0097040

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