Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-09629-9.pdf
Reference38 articles.
1. Petrukhin, K. et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet 19, 241–247 (1998).
2. Johnson, A. A. et al. Bestrophin 1 and retinal disease. Prog Retin Eye Res. doi: 10.1016/j.preteyeres.2017.01.006. (2017).
3. Boon, C. J. et al. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res 28, 187–205 (2009).
4. Marmorstein, A. D. et al. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci USA 97, 12758–12763 (2000).
5. Kane Dickson, V., Pedi, L. & Long, S. B. Structure and insights into the function of a Ca(2+)-activated Cl(−) channel. Nature 516, 213–218 (2014).
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