Article
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
Human mutation - 1 Jan 1996
Keen T J, Inglehearn C F
Abstract excerpt
The RDS gene codes for the protein peripherin-RDS, which is an integral membrane glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It is thought to function as a structural protein involved in the maintenance of the flattened form of the disc lamellae. The RDS gene...
Topics
- Animals
- Eye Proteins
- Humans
- Intermediate Filament Proteins
- Macular Degeneration
- Membrane Glycoproteins
- Mice
- Mice, Mutant Strains
- Mutation
- Nerve Tissue Proteins
- Peripherins
- Phenotype
- Point Mutation
- Polymorphism, Genetic
- Protein Structure, Secondary
- Retinal Cone Photoreceptor Cells
- Retinal Degeneration
- Retinitis Pigmentosa