Article
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.
Genomics - 15 May 1999
Caldwell G M, Kakuk L E, Griesinger I B, Simpson S A, Nowak N J, Small K W, Maumenee I H, Rosenfeld P J, Sieving P A, Shows T B, Ayyagari R
Abstract excerpt
Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystrophy with a juvenile age of onset. Mutations in the Bestrophin gene were shown in patients affected with VMD2. In a mutation study, we made three new and interesting observations. First, we identified possible mutation hotspots within the gene, suggesting that particular regions of the protein have greater functional significance than others....
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