Article
Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
Ophthalmology - 1 Aug 1994
Fishman G A, Stone E, Gilbert L D, Vandenburgh K, Sheffield V C, Heckenlively J R
Abstract excerpt
BACKGROUND: Mutations in the human peripherin/retinal degeneration slow (rds) gene have been found in patients with macular dystrophies as well as in those with autosomal dominant retinitis pigmentosa. The authors studied the clinical features in members of two families with autosomal dominant re...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- Child
- Codon
- DNA
- DNA Primers
- Electroretinography
- Eye Proteins
- Female
- Humans
- Intermediate Filament Proteins