X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.

@article{Demirci2002XlinkedCD,
  title={X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.},
  author={F. Yesim K. Demirci and Brian W Rigatti and Gaiping Wen and Amy L Radak and Tammy S Mah and Corrine L Baic and Elias I. Traboulsi and Tiina Alitalo and Juliane Ramser and Michael B. Gorin},
  journal={American journal of human genetics},
  year={2002},
  volume={70 4},
  pages={1049-53}
}
X-linked cone-rod dystrophy (COD1) is a retinal disease that primarily affects the cone photoreceptors; the disease was originally mapped to a limited region of Xp11.4. We evaluated the three families from our original study with new markers and clinically reassessed all key recombinants; we determined that the critical intervals in families 2 and 3 overlapped the RP3 locus and that a status change (from affected to probably unaffected) of a key recombinant individual in family 1 also… CONTINUE READING

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