A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

@article{Gorin1995APD,
  title={A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.},
  author={Michael B. Gorin and Katherine E. Jackson and Robert E. Ferrell and Val C. Sheffield and Samuel G. Jacobson and Jennifer M Gass and Erika Mitchell and Edwin M. Stone},
  journal={Ophthalmology},
  year={1995},
  volume={102 2},
  pages={
          246-55
        }
}
BACKGROUND Mutations in the peripherin/retinal degeneration slow (RDS) gene have been identified in patients with retinitis pigmentosa and pattern macular dystrophy. The authors initially examined a large family affected with both peripheral and macular degeneration, inherited as an autosomal dominant trait. Screening for peripherin/RDS mutations identified a previously unreported nucleotide alteration in all of the affected individuals. Two additional families later were found to have this… CONTINUE READING
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