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A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

Rivera, A. ; White, K. ; Stöhr, H. ; Steiner, K. ; Hemmrich, N. ; Grimm, T. ; Jurklies, B. ; Lorenz, B. ; Scholl, H. P. N. ; Apfelstedt-Sylla, E. ; Weber, Bernhard H. F.


Stargardt disease (STGD) is a common autosomal recessive maculopathy of early and young-adult onset and is caused by alterations in the gene encoding the photoreceptor-specific ATP-binding cassette (ABC) transporter (ABCA4). We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German population, to complete a comprehensive, population-specific survey of the ...


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