Effects of Disease-Causing Mutations Associated with Five Bestrophinopathies on the Localization and Oligomerization of Bestrophin-1
Mutations in BEST1, the gene encoding for Bestrophin-1 (Best1), cause five, clinically distinct inherited retinopathies: Best vitelliform macular dystrophy (BVMD), adult-onset vitelliform macular dystrophy (AVMD), autosomal recessive bestrophinopathy (ARB), autosomal dominant vitreoretinochoroidopat...
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Language: | en_US |
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The University of Arizona.
2014
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Online Access: | http://hdl.handle.net/10150/314121 |