Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa-Reference-Cited by-同舟云学术

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa

Published:2015-03-18 Issue:1 Volume:5 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Ma Xiangyu,Guan Liping,Wu Wei,Zhang Yao,Zheng Wei,Gao Yu-Tang,Long Jirong,Wu Na,Wu Long,Xiang Ying,Xu Bin,Shen Miaozhong,Chen Yanhua,Wang Yuewen,Yin Ye,Li Yingrui,Xu Haiwei,Xu Xun,Li Yafei

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep09236.pdf

Reference48 articles.

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2. Busskamp, V. et al. Genetic Reactivation of Cone Photoreceptors Restores Visual Responses in Retinitis Pigmentosa. Science 329, 413–417, 10.1126/science.1190897 (2010).

3. Hartong, D. T., Berson, E. L. & Dryja, T. P. Retinitis pigmentosa. Lancet 368, 1795–1809, 10.1016/S0140-6736(06)69740-7 (2006).

4. Bamshad, M. J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews Genetics 12, 745–755, 10.1038/Nrg3031 (2011).

5. Bowne, S. J. et al. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet 19, 1074–1081, 10.1038/ejhg.2011.86 (2011).

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