A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. [electronic resource]
Producer: 19980317Description: 273-7 p. digitalISSN:- 0964-6906
- Amino Acid Sequence
- Calcium-Binding Proteins -- chemistry
- Chromosomes, Human, Pair 6 -- genetics
- DNA Mutational Analysis
- Eye Proteins
- Female
- Genes
- Genes, Dominant
- Guanylate Cyclase-Activating Proteins
- Hippocalcin
- Humans
- Lipoproteins
- Lod Score
- Male
- Models, Molecular
- Molecular Sequence Data
- Nerve Tissue Proteins
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Protein Conformation
- Recoverin
- Retinal Cone Photoreceptor Cells -- pathology
- Retinal Degeneration -- enzymology
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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