Variation of Clinical Expression in Patients With Stargardt Dystrophy and Sequence Variations in the ABCRGene
Open Access
- 1 April 1999
- journal article
- ophthalmic molecular-genetics
- Published by American Medical Association (AMA) in Archives of Ophthalmology (1950)
- Vol. 117 (4) , 504-510
- https://doi.org/10.1001/archopht.117.4.504
Abstract
A GENE ASSOCIATED with Stargardt dystrophy1 and fundus flavimaculatus2 has been mapped to the short arm of chromosome 1. This gene was subsequently identified to be a photoreceptor gene–specific ATP-binding transporter gene (ABCR)3 that is localized to the disc membrane of retinal rod outer segments.4 Sequence changes in this gene were also identified in patients with age-related macular degeneration5 and in a family with an autosomal-recessive form of retinitis pigmentosa.6Keywords
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