Article
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
European journal of human genetics : EJHG - 1 Jan 2000
Marlhens F, Griffoin J M, Bareil C, Arnaud B, Claustres M, Hamel C P
Abstract excerpt
Retinal dystrophies are a complex set of hereditary diseases of the retina that result in the degeneration of photoreceptors. Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11-cis-retinoid...
Topics
- Amino Acid Sequence
- Amino Acid Substitution
- Base Sequence
- Carrier Proteins
- DNA
- Eye Proteins
- Female
- Genes, Recessive
- Heterozygote
- Humans
- Male
- Mutation
- Pedigree
- Pigment Epithelium of Eye
- Proteins
- Retinal Diseases
- cis-trans-Isomerases