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Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness

BACKGROUND: Nonsyndromic hearing loss is clinically and genetically heterogeneous. In this study, we characterized the clinical features of 12 Chinese Han deaf families in which mutations in common deafness genes GJB2, SLC26A4, and MT‐RNR1 were excluded. METHODS: Targeted next‐generation sequencing...

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Detalles Bibliográficos
Autores principales: Wu, Di, Huang, Weiyuan, Xu, Zhenhang, Li, Shuo, Zhang, Jie, Chen, Xiaohua, Tang, Yan, Qiu, Jinhong, Wang, Zhixia, Duan, Xuchu, Zhang, Luping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196461/
https://www.ncbi.nlm.nih.gov/pubmed/32048449
http://dx.doi.org/10.1002/mgg3.1177