Article
Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1992
Fishman G A, Vandenburgh K, Stone E M, Gilbert L D, Alexander K R, Sheffield V C
Abstract excerpt
Two members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-thymine mutation in the second nucleotide of codon 267 in the rhodopsin gene that resulted in a proline-to-leucine change. Two members of another family with autosomal dominant retinitis pigmento...
Topics
- Adult
- Aged
- Aged, 80 and over
- Base Sequence
- Codon
- Dark Adaptation
- Electrophoresis, Polyacrylamide Gel
- Electroretinography
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Photic Stimulation
- Retinitis Pigmentosa
- Rhodopsin