Article
Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.
American journal of human genetics - 1 Sept 2001
Wilkie S E, Li Y, Deery E C, Newbold R J, Garibaldi D, Bateman J B, Zhang H, Lin W, Zack D J, Bhattacharya S S, Warren M J, Hunt D M, Zhang K
Abstract excerpt
Mutations in the gene for guanylate cyclase-activating protein-1 (GCAP1) (GUCA1A) have been associated with autosomal dominant cone dystrophy (COD3). In the present study, a severe disease phenotype in a large white family was initially shown to map to chromosome 6p21.1, the location of GUCA1A. Subsequent single-stranded conformation polymorphism analysis and direct sequencing revealed an A464G transition,...
Topics
- Amino Acid Sequence
- Amino Acid Substitution
- Calcium-Binding Proteins
- Corneal Dystrophies, Hereditary
- DNA
- Female
- Glutamic Acid
- Glycine
- Guanylate Cyclase-Activating Proteins
- Humans