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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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Bibliografski detalji
Izdano u:Eye (Lond)
Glavni autori: Huang, Lulin, Mao, Yao, Yang, Jiyun, Li, Yuanfeng, Li, Yang, Yang, Zhenglin
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2018
Teme:
Online pristup: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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