Article
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
American journal of human genetics - 1 Mar 1992
Weitz C J, Miyake Y, Shinzato K, Montag E, Zrenner E, Went L N, Nathans J
Abstract excerpt
Tritanopia is an autosomal dominant genetic disorder of human vision characterize by a selective deficiency of blue spectral sensitivity. The defect is manifested within the retina and could be caused by a deficiency in function or numbers (or both) of blue-sensitive cone photoreceptors. We have...
Topics
- Arginine
- Base Sequence
- Chi-Square Distribution
- Cloning, Molecular
- Color Vision Defects
- DNA
- DNA Probes
- Electrophoresis, Gel, Pulsed-Field
- Eye Proteins
- Genes, Dominant
- Glycine
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Amplification Techniques
- Pedigree
- Polymerase Chain Reaction
- Retinal Pigments