Article
Analysis of rhodopsin gene in patients with retinitis pigmentosa using allele-specific polymerase chain reaction.
Japanese journal of ophthalmology - 1 Jan 1991
Nakazawa M, Kikawa-Araki E, Shiono T, Tamai M
Abstract excerpt
Point mutations within the rhodopsin gene have been found recently in some patients with autosomal dominant retinitis pigmentosa (ADRP). Currently, four types of point mutations at codons 23, 58 and 347 have been identified. The purposes of this study were to establish simple methods for screenin...
Topics
- Alleles
- Antisense Elements (Genetics)
- Base Sequence
- Codon
- DNA
- DNA Restriction Enzymes
- Humans
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Retinitis Pigmentosa
- Rhodopsin