Article
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America - 15 Oct 1991
Dryja T P, Hahn L B, Cowley G S, McGee T L, Berson E L
Abstract excerpt
We searched for point mutations in every exon of the rhodopsin gene in 150 patients from separate families with autosomal dominant retinitis pigmentosa. Including the 4 mutations we reported previously, we found a total of 17 different mutations that correlate with the disease. Each of these muta...
Topics
- Amino Acid Sequence
- Base Sequence
- Cell Membrane
- Codon
- Exons
- Eye Proteins
- Female
- Genes, Dominant
- Humans
- Male
- Models, Structural
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Oligonucleotides, Antisense
- Pedigree
- Protein Conformation
- Restriction Mapping