Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.

@article{Zangerl2006IdenticalMI,
  title={Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.},
  author={Barbara Zangerl and Orly Goldstein and Alisdair R. Philp and Sarah J P Lindauer and Susan E. Pearce-Kelling and Robert F Mullins and Alexander S Graphodatsky and D Ripoll and Jeanette S. Felix and Edwin M. Stone and Gregory M. Acland and Gustavo D Aguirre},
  journal={Genomics},
  year={2006},
  volume={88 5},
  pages={
          551-63
        }
}
Progressive rod-cone degeneration (prcd) is a late-onset, autosomal recessive photoreceptor degeneration of dogs and a homolog for some forms of human retinitis pigmentosa (RP). Previously, the disease-relevant interval was reduced to a 106-kb region on CFA9, and a common phenotype-specific haplotype was identified in all affected dogs from several different breeds and breed varieties. Screening of a canine retinal EST library identified partial cDNAs for novel candidate genes in the disease… CONTINUE READING

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