Article
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
Human mutation - 1 Jan 2000
White K, Marquardt A, Weber B H
Abstract excerpt
Mutations in the gene VMD2 are associated with autosomal dominant vitelliform macular dystrophy (Best disease). VMD2 is expressed in the retinal pigment epithelium and codes for a 585 amino acid putative transmembrane protein with undetermined functional properties. To date, 48 different mutations, predominantly missense, have been described in Best disease families. These mutations generally affect amino acids...
Topics
- Animals
- Bestrophins
- Chloride Channels
- DNA Mutational Analysis
- Eye Proteins
- Genetic Variation
- Humans
- Macular Degeneration
- Models, Molecular
- Mutation
- Polymorphism, Genetic