Article
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
American journal of human genetics - 1 Nov 1998
Sohocki M M, Sullivan L S, Mintz-Hittner H A, Birch D, Heckenlively J R, Freund C L, McInnes R R, Daiger S P
Abstract excerpt
Mutations in the retinal-expressed gene CRX (cone-rod homeobox gene) have been associated with dominant cone-rod dystrophy and with de novo Leber congenital amaurosis. However, CRX is a transcription factor for several retinal genes, including the opsins and the gene for interphotoreceptor retino...
Topics
- Amino Acid Substitution
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 19
- Eye Proteins
- Female
- Genetic Variation
- Homeodomain Proteins
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Point Mutation