Autosomal Dominant Vitreoretinochoroidopathy With a Novel BEST1 Mutation and a Review of Reported Mutations
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference10 articles.
1. Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies;Singh Grewal S;Ther Adv Ophthalmol,2021
2. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC);Yardley J;Invest Ophthalmol Vis Sci,2004
3. Role of the Ca2+ -activated Cl- channels bestrophin and anoctamin in epithelial cells;Kunzelmann K;Biol Chem,2011
4. Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells;Milenkovic A;Proc Natl Acad Sci U S A,2015
5. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium;Marmorstein AD;Proc Natl Acad Sci U S A,2000
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