A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

@article{Dryja1990APM,
  title={A point mutation of the rhodopsin gene in one form of retinitis pigmentosa},
  author={T. Dryja and T. McGee and E. Reichel and L. B. Hahn and G. Cowley and D. Yandell and M. Sandberg and E. Berson},
  journal={Nature},
  year={1990},
  volume={343},
  pages={364-366}
}
  • T. Dryja, T. McGee, +5 authors E. Berson
  • Published 1990
  • Biology, Medicine
  • Nature
  • THE gene for autosomal dominant retinitis pigmentosa in a large pedigree of Irish origin has recently been found to be linked to an anonymous polymorphic sequence, D3S47 (C17), from the long arm of chromosome 3 (refs 1, 2). As the gene coding for rhodopsin is also assigned to the long arm of chromosome 3 (refs 3, 4) and is expressed in rod photoreceptors that are affected early in this blinding disease5, we searched for a mutation of the rhodopsin gene in patients with autosomal dominant… CONTINUE READING

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