A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

X-linked hearing impairment is the rarest form of genetic hearing loss (HL) and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile7...

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Detalles Bibliográficos
Autores principales: Niu, Zhijie, Feng, Yong, Mei, Lingyun, Sun, Jie, Wang, Xueping, Wang, Juncheng, Hu, Zhengmao, Dong, Yunpeng, Chen, Hongsheng, He, Chufeng, Liu, Yalan, Cai, Xinzhang, Liu, Xuezhong, Jiang, Lu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444825/
https://www.ncbi.nlm.nih.gov/pubmed/28542515
http://dx.doi.org/10.1371/journal.pone.0178384

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444825/
https://www.ncbi.nlm.nih.gov/pubmed/28542515
http://dx.doi.org/10.1371/journal.pone.0178384

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