A. Gómez, J. Cedano, B. Oliva, J. Piñol, E. Querol
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The Gene Causing the Best's Macular Dystrophy (BMD) Encodes a Putative Ion Exchanger
Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2, is an autosomal dominant disease that causes loss of vision. The causative gene encodes a 585 amino acids protein called bestrophin with unknown function. From bioinformatics analysis, a putative ion exchanger function for bestrophin can be suggested.