GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. [electronic resource]
Producer: 19980831Description: 129-33 p. digitalISSN:- 1097-2765
- Adaptation, Physiological
- Animals
- Calcium -- pharmacology
- Calcium-Binding Proteins -- chemistry
- Cattle
- Cell Line
- Cloning, Molecular
- Color Vision Defects -- genetics
- Cyclic GMP -- metabolism
- Darkness
- Enzyme Activation
- Eye Diseases, Hereditary -- genetics
- Eye Proteins -- chemistry
- Genes, Dominant
- Guanylate Cyclase -- chemistry
- Guanylate Cyclase-Activating Proteins
- Humans
- Macular Degeneration
- Moths
- Mutagenesis, Site-Directed
- Optic Atrophies, Hereditary -- genetics
- Protein Conformation
- Recombinant Fusion Proteins -- biosynthesis
- Retinal Cone Photoreceptor Cells -- metabolism
- Signal Transduction -- genetics
- Structure-Activity Relationship
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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