Article
Analysis of peripherin/RDS gene for Japanese retinal dystrophies.
Japanese journal of ophthalmology - 1 Jan 2000
Fujiki K, Hotta Y, Hayakawa M, Fujimaki T, Takeda M, Isashiki Y, Ohba N, Kanai A
Abstract excerpt
We studied 133 Japanese patients with retinal dystrophies to detect peripherin/RDS (retinal degeneration slow) gene defects. The patients analyzed included 52 with autosomal dominant retinitis pigmentosa, 36 with autosomal recessive retinitis pigmentosa, 3 with simplex retinitis pigmentosa, 12 wi...
Topics
- DNA
- DNA Mutational Analysis
- DNA Primers
- Electrophoresis, Agar Gel
- Eye Proteins
- Genotype
- Humans
- Intermediate Filament Proteins
- Japan
- Membrane Glycoproteins
- Nerve Tissue Proteins
- Peripherins
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Retinal Degeneration