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 Stargardt's disease. By fluorescence in situ hybridization we have mapped the ABCR gene to chromosomal band 1p21-p22.1....
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