Article
Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.
Nature - 17 Feb 1994
Rao V R, Cohen G B, Oprian D D
Abstract excerpt
Mutations in the gene for the visual pigment rhodopsin cause retinitis pigmentosa (RP) and congenital night blindness. Inheritance of the diseases is generally autosomal dominant and about 40 different rhodopsin mutations have been documented. Although the cell death and retinal degeneration asso...
Topics
- Cell Line
- Humans
- Mutation
- Night Blindness
- Protein Conformation
- Rhodopsin
- Schiff Bases