Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

Autosomal dominant non-syndromic hearing loss (ADNSHL) is highly heterogeneous, among them, KCNQ4 is one of the most frequent disease-causing genes. More than twenty KCNQ4 mutations have been reported, but none of them were detected in Chinese mainland families. In this study, we identified a novel...

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Detalles Bibliográficos
Autores principales: Wang, Hongyang, Zhao, Yali, Yi, Yuting, Gao, Yun, Liu, Qiong, Wang, Dayong, Li, Qian, Lan, Lan, Li, Na, Guan, Jing, Yin, Zifang, Han, Bing, Zhao, Feifan, Zong, Liang, Xiong, Wenping, Yu, Lan, Song, Lijie, Yi, Xin, Yang, Ling, Petit, Christine, Wang, Qiuju
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/PMC4130520/
https://www.ncbi.nlm.nih.gov/pubmed/25116015
http://dx.doi.org/10.1371/journal.pone.0103133

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