Article
The role of the peripherin/RDS gene in retinal dystrophies.
Acta anatomica - 1 Jan 1998
Kohl S, Giddings I, Besch D, Apfelstedt-Sylla E, Zrenner E, Wissinger B
Abstract excerpt
Peripherin/RDS is a transmembrane glycoprotein expressed in vertebrate photoreceptors. It is located at the rim of the disc membranes of the photoreceptor outer segments, where it is thought to play an important role in folding and stacking of the discs. Initially, the identification of a mutatio...
Topics
- Animals
- Genetic Variation
- Genotype
- Humans
- Intermediate Filament Proteins
- Membrane Glycoproteins
- Mice
- Mice, Mutant Strains
- Mice, Transgenic
- Nerve Tissue Proteins
- Peripherins
- Phenotype
- Point Mutation
- Retinal Degeneration