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Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population

OBJECTIVES: USH2A encodes for usherin, a basement membrane protein in the inner ear and retina. USH2A can cause retinitis pigmentosa (RP) with or without hearing loss. The aim of this study was to detect USH2A mutations in a Chinese cohort of 75 small RP families and 10 Usher syndrome families. METH...

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書目詳細資料
發表在:Eye (Lond)
Main Authors: Huang, Lulin, Mao, Yao, Yang, Jiyun, Li, Yuanfeng, Li, Yang, Yang, Zhenglin
格式: Artigo
語言:Inglês
出版: Nature Publishing Group UK 2018
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6189035/
https://ncbi.nlm.nih.gov/pubmed/29899460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41433-018-0130-3
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