Article
An analysis of allelic variation in the ABCA4 gene.
Investigative ophthalmology & visual science - 1 May 2001
Webster A R, Héon E, Lotery A J, Vandenburgh K, Casavant T L, Oh K T, Beck G, Fishman G A, Lam B L, Levin A, Heckenlively J R, Jacobson S G, Weleber R G, Sheffield V C, Stone E M
Abstract excerpt
PURPOSE: To assess the allelic variation of the ATP-binding transporter protein (ABCA4). METHODS: A combination of single-strand conformation polymorphism (SSCP) and automated DNA sequencing was used to systematically screen this gene for sequence variations in 374 unrelated probands with a clinical diagnosis of Stargardt disease, 182 patients with age-related macular degeneration (AMD), and 96 normal subjects....
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