A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.

@article{Nishiguchi2004ANM,
  title={A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.},
  author={Koji M Nishiguchi and Izabela Sokal and Lili Yang and Nirmalya Roychowdhury and Krzysztof Palczewski and Eliot L. Berson and T. P. Dryja and Wolfgang Baehr},
  journal={Investigative ophthalmology & visual science},
  year={2004},
  volume={45 11},
  pages={3863-70}
}
PURPOSE To identify pathogenic mutations in the guanylate cyclase-activating protein 1 (GCAP1) and GCAP2 genes and to characterize the biochemical effect of mutation on guanylate cyclase (GC) stimulation. METHODS The GCAP1 and GCAP2 genes were screened by direct sequencing for mutations in 216 patients and 421 patients, respectively, with various hereditary retinal diseases. A mutation in GCAP1 segregating with autosomal dominant cone degeneration was further evaluated biochemically by… CONTINUE READING