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The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Dahl N, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. Maugeri A, et al. Among authors: van haren fj. Am J Hum Genet. 1999 Apr;64(4):1024-35. doi: 10.1086/302323. Am J Hum Genet. 1999. PMID: 10090887 Free PMC article.