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.

@article{Maugeri1999The2M,
  title={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.},
  author={A. Maugeri and M. V. van Driel and D. J. van de Pol and B. J. Klevering and F. van Haren and N. Tijmes and A. Bergen and K. Rohrschneider and A. Blankenagel and A. Pinckers and N. Dahl and H. Brunner and A. Deutman and C. Hoyng and F. Cremers},
  journal={American journal of human genetics},
  year={1999},
  volume={64 4},
  pages={
          1024-35
        }
}
In 40 western European patients with Stargardt disease (STGD), we found 19 novel mutations in the retina-specific ATP-binding cassette transporter (ABCR) gene, illustrating STGD's high allelic heterogeneity. One mutation, 2588G-->C, identified in 15 (37.5%) patients, shows linkage disequilibrium with a rare polymorphism (2828G-->A) in exon 19, suggesting a founder effect. The guanine at position 2588 is part of the 3' splice site of exon 17. Analysis of the lymphoblastoid cell mRNA of two STGD… Expand
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