Article
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
Human molecular genetics - 1 Jul 1998
Kelsell R E, Gregory-Evans K, Payne A M, Perrault I, Kaplan J, Yang R B, Garbers D L, Bird A C, Moore A T, Hunt D M
Abstract excerpt
The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. The retinal-specific guanylate cyclase gene (RETGC-1), which maps to within this genetic interval and previously was implicated in Leber's congenital amaurosis, was screened f...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Child
- Female
- Guanylate Cyclase
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Optic Atrophies, Hereditary
- Pedigree
- Phenotype
- Retinal Cone Photoreceptor Cells
- Retinal Rod Photoreceptor Cells