Article
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
American journal of human genetics - 1 Feb 1999
Lewis R A, Shroyer N F, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski J R, Leppert M, Dean M
Abstract excerpt
Mutation scanning and direct DNA sequencing of all 50 exons of ABCR were completed for 150 families segregating recessive Stargardt disease (STGD1). ABCR variations were identified in 173 (57%) disease chromosomes, the majority of which represent missense amino acid substitutions. These ABCR variants were not found in 220 unaffected control individuals (440 chromosomes) but do cosegregate with the disease in...
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