Article
Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jan 1991
Heckenlively J R, Rodriguez J A, Daiger S P
Abstract excerpt
A cytosine-to-adenine transversion in codon 23 of rhodopsin, the rod visual pigment gene, was reported recently by Dryja et al in 17 of 148 unrelated patients with autosomal dominant retinitis pigmentosa, but the clinical findings associated with this deletion have not been reported in detail. In...
Topics
- Adult
- Base Sequence
- Codon
- DNA
- Electroretinography
- Female
- Fluorescein Angiography
- Fundus Oculi
- Genes, Dominant
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Pedigree
- Polymerase Chain Reaction
- Retinitis Pigmentosa