Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. [electronic resource]
Producer: 20010906Description: 471-80 p. digitalISSN:- 0002-9297
- Amino Acid Sequence
- Amino Acid Substitution
- Calcium-Binding Proteins -- chemistry
- Corneal Dystrophies, Hereditary -- genetics
- DNA -- analysis
- Female
- Glutamic Acid -- genetics
- Glycine -- genetics
- Guanylate Cyclase-Activating Proteins
- Humans
- Male
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Pedigree
- Protein Conformation
- Pyrimidines
- Sequence Homology, Amino Acid
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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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