A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.

@article{Piri2005ASO,
  title={A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.},
  author={Natik Piri and Yong Qing Gao and Michael Danciger and Emmanuel Mendoza and Gerald Allen Fishman and Debora B Farber},
  journal={Ophthalmology},
  year={2005},
  volume={112 1},
  pages={159-66}
}
OBJECTIVE To identify genes responsible for cone dystrophies and determine the functional consequences of their underlying mutations. DESIGN Case-control study. PARTICIPANTS Two hundred forty unrelated patients diagnosed with cone dystrophy, cone-rod dystrophy, macular dystrophy, macular degeneration, or Stargardt disease, 95 control individuals, and 2 unrelated families with a distinctive type of cone dystrophy. METHODS The DNAs of the 240 probands were screened for sequence variants in… CONTINUE READING

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