Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy
Author:
Affiliation:
1. Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Subject
Cardiology and Cardiovascular Medicine
Reference32 articles.
1. Biallelic mutation of BEST1 causes a distinct retinopathy in humans;Burgess;Am J Hum Genet,2008
2. Bestrophin 1 and retinal disease;Johnson;Prog Retin Eye Res,2017
3. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium;Marmorstein;Proc Natl Acad Sci USA,2000
4. Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium;Marmorstein;Mol Vis,2015
5. Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells;Milenkovic;Proc Natl Acad Sci USA,2015
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