Article
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.
Human genetics - 1 Jan 1998
Nasonkin I, Illing M, Koehler M R, Schmid M, Molday R S, Weber B H
Abstract excerpt
Using a bovine rod photoreceptor cell-specific ATP-binding cassette (ABC) transporter cDNA we have cloned the full-length transcript of the homologous human gene and demonstrate that it is identical to the photoreceptor cell-specific ABC transporter (ABCR) recently shown to be mutated in Stargard...
Topics
- ATP-Binding Cassette Transporters
- Chromosome Mapping
- Chromosomes, Human, Pair 1
- Cloning, Molecular
- DNA Mutational Analysis
- Gene Expression
- Humans
- Macular Degeneration
- Molecular Sequence Data
- Mutation
- Pedigree
- Retina
- Rod Cell Outer Segment