Article
A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science - 14 Oct 2014
Wang Feng, Wang Yandong, Zhang Bin, Zhao Li, Lyubasyuk Vera, Wang Keqing, Xu Mingchu, Li Yumei, Wu Frances, Wen Cindy, Bernstein Paul S, Lin Danni, Zhu Susanna, Wang Hui, Zhang Kang, Chen Rui
Abstract excerpt
PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous disease with over 60 causative genes known to date. Nevertheless, approximately 40% of RP cases remain genetically unsolved, suggesting that many novel disease-causing genes are yet to be identified. In this study, we aimed to identify the causative mutation for a large autosomal dominant RP (adRP) family with negative results from known retinal...
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