N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.

@article{Rosenberg2007N965SIA,
  title={N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.},
  author={Thomas Rosenberg and Flemming Klie and Peter Garred and Marianne Schwartz},
  journal={Molecular vision},
  year={2007},
  volume={13},
  pages={1962-9}
}
PURPOSE The study was conducted to resolve the spectrum of ABCA4 mutations in a cohort of unrelated Danish residents with early-onset macular dystrophy. METHODS A microarray technique was used to analyze known ABCA4 mutations in genomic DNA from a selected group of 161 unrelated individuals referred to the national low vision clinic. The clinical observation time varied from a single examination to follow-up over 35 years. RESULTS Fifty-nine allegedly disease-associated ABCA4 variants were… CONTINUE READING

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