Article
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.
Human molecular genetics - 1 Feb 1999
Swaroop A, Wang Q L, Wu W, Cook J, Coats C, Xu S, Chen S, Zack D J, Sieving P A
Abstract excerpt
The CRX (cone-rod homeobox) gene is specifically expressed in developing and mature photoreceptors and encodes an otd/Otx-like paired homeodomain protein. Mutant alleles of the CRX gene have recently been associated with autosomal dominant cone-rod dystrophy (CORD) as well as dominant Leber conge...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Amino Acid Substitution
- Binding Sites
- Child
- DNA
- Female
- Homeodomain Proteins
- Homozygote
- Humans
- Male
- Middle Aged
- Molecular Sequence Data