CEP78 is mutated in a distinct type of Usher syndrome

BACKGROUND: Usher syndrome is a genetically heterogeneous disorder featured by combined visual impairment and hearing loss. Despite a dozen of genes involved in Usher syndrome having been identified, the genetic basis remains unknown in 20–30% of patients. In this study, we aimed to identify the nov...

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Udgivet i:J Med Genet
Main Authors: Fu, Qing, Xu, Mingchu, Chen, Xue, Sheng, Xunlun, Yuan, Zhisheng, Liu, Yani, Li, Huajin, Sun, Zixi, Li, Huiping, Yang, Lizhu, Wang, Keqing, Zhang, Fangxia, Li, Yumei, Zhao, Chen, Sui, Ruifang, Chen, Rui
Format: Artigo
Sprog:Inglês
Udgivet: 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6235689/
https://ncbi.nlm.nih.gov/pubmed/27627988
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-104166
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