Author:
Chen Yuanyuan,Chen Yu,Jastrzebska Beata,Golczak Marcin,Gulati Sahil,Tang Hong,Seibel William,Li Xiaoyu,Jin Hui,Han Yong,Gao Songqi,Zhang Jianye,Liu Xujie,Heidari-Torkabadi Hossein,Stewart Phoebe L.,Harte William E.,Tochtrop Gregory P.,Palczewski Krzysztof
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry
Reference70 articles.
1. Gregersen, N., Bross, P., Vang, S. & Christensen, J. H. Protein misfolding and human disease. Annu. Rev. Genom. Hum. Genet. 7, 103–124 (2006).
2. Thompson, D. A. et al. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest. Ophthalmol. Vis. Sci. 41, 4293–4299 (2000).
3. Morimura, H. et al. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc. Natl Acad. Sci. USA 95, 3088–3093 (1998).
4. Zhang, N. et al. Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. Hum. Mol. Genet. 24, 3220–3237 (2015).
5. Rivera, A. et al. A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am. J. Hum. Genet. 67, 800–813 (2000).
Cited by
51 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献