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Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss
Autosomal dominant non-syndromic hearing loss is highly heterogeneous, and eyes absent 4 (EYA4) is a disease-causing gene. Most EYA4 mutations founded in the Eya-homologous region, however, no deafness causative missense mutation in variable region of EYA4 have previously been found. In this study,...
Autores principales: | Liu, Fei, Hu, Jiongjiong, Xia, Wenjun, Hao, Lili, Ma, Jing, Ma, Duan, Ma, Zhaoxin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427289/ https://www.ncbi.nlm.nih.gov/pubmed/25961296 http://dx.doi.org/10.1371/journal.pone.0126602 |
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