Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.

@article{Paloma2001SpectrumOA,
  title={Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.},
  author={Eva Paloma and Amalia Mart{\'i}nez-Mir and Llu{\"i}sa Vilageliu and Roser Gonz{\`a}lez-Duarte and Susana Balcells},
  journal={Human mutation},
  year={2001},
  volume={17 6},
  pages={504-10}
}
The ABCA4 gene has been involved in several forms of inherited macular dystrophy. In order to further characterize the complex genotype-phenotype relationships involving this gene, we have performed a mutation analysis of ABCA4 in 14 Spanish patients comprising eight STGD (Stargardt), four FFM (fundus flavimaculatus), and two CRD (Cone-rod dystrophy) patients. SSCP (single-strand conformation polymorphism) analysis and DNA sequencing of the coding and 5' upstream regions of this gene allowed… CONTINUE READING

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