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Nat Genet. 2000 Jul;25(3):257-8.

ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy.

Author information

1
Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada.

Abstract

Mutations in the gene encoding ABCR are responsible for Stargardt macular dystrophy. Here we show by immunofluorescence microscopy and western-blot analysis that ABCR is present in foveal and peripheral cone, as well as rod, photoreceptors. Our results suggest that the loss in central vision experienced by Stargardt patients arises directly from ABCR-mediated foveal cone degeneration.

PMID:
10888868
DOI:
10.1038/77004
[Indexed for MEDLINE]

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