Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families

Autosomal dominant non‐syndromic hearing loss is genetically heterogeneous with 47 genes identified to date, including POU4F3. In this study, by using a next‐generation sequencing panel targeting 127 deafness genes, we identified a pathogenic frameshift mutation c.704_705del and a missense mutation...

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Detalles Bibliográficos
Autores principales: Bai, Xiaohui, Zhang, Fengguo, Xiao, Yun, Jin, Yu, Zheng, Qingyin, Wang, Haibo, Xu, Lei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299729/
https://www.ncbi.nlm.nih.gov/pubmed/32390314
http://dx.doi.org/10.1111/jcmm.15359

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299729/
https://www.ncbi.nlm.nih.gov/pubmed/32390314
http://dx.doi.org/10.1111/jcmm.15359

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