Article
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.
Nature - 12 Dec 1991
Farrar G J, Kenna P, Jordan S A, Kumar-Singh R, Humphries M M, Sharp E M, Sheils D M, Humphries P
Abstract excerpt
The group of retinopathies termed retinitis pigmentosa (RP) greatly contribute to visual dysfunction in man with a frequency of roughly 1 in 4,000. We mapped the first autosomal dominant RP (adRP) gene to chromosome 3q, close to the gene encoding rhodopsin, a rod photoreceptor pigment protein. Su...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Chromosome Deletion
- Female
- Humans
- Intermediate Filament Proteins
- Male
- Membrane Glycoproteins
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- Pedigree
- Peripherins
- Polymerase Chain Reaction
- Retinitis Pigmentosa