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. P. Dryja and T. L. McGee and Elias Reichel and Lauri B. Hahn and Glenn S Cowley and D. W. Yandell and Michael A. Sandberg and Eliot L. Berson},
  journal={Nature},
  year={1990},
  volume={343},
  pages={364-366}
}
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
Highly Influential
This paper has highly influenced 15 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS

Citations

Publications citing this paper.
Showing 1-10 of 304 extracted citations

Similar Papers

Loading similar papers…