Article
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
Nature genetics - 1 Dec 1996
Perrault I, Rozet J M, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier J L, Pittler S, Munnich A, Kaplan J
Abstract excerpt
Leber's congenital amaurosis (LCA, MIM 204,000), the earliest and most severe form of inherited retinopathy, accounts for at least 5% of all inherited retinal dystrophies. This autosomal recessive condition is usually recognized at birth or during the first months of life in an infant with total...
Topics
- Blindness
- Chromosomes, Human, Pair 17
- Cyclic GMP
- Frameshift Mutation
- Guanylate Cyclase
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation
- Optic Atrophies, Hereditary
- Photoreceptor Cells
- Restriction Mapping
- Retina