Article
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
Nature - 12 Dec 1991
Kajiwara K, Hahn L B, Mukai S, Travis G H, Berson E L, Dryja T P
Abstract excerpt
The murine retinal degeneration slow (rds) gene is a semidominant mutation with a phenotype having rod and cone photoreceptors that develop abnormally and then slowly degenerate. The phenotype is a possible model for retinitis pigmentosa, one of the scores of hereditary human retinal degeneration...
Topics
- Adult
- Amino Acid Sequence
- Animals
- Base Sequence
- Blotting, Northern
- Child
- Cloning, Molecular
- Electroretinography
- Female
- Genes, Dominant
- Genetic Linkage
- Humans
- Male
- Mice
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Restriction Fragment Length