Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.

@article{Downes2001AutosomalDC,
  title={Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.},
  author={Susan M. Downes and G. E. Holder and Frederick W. Fitzke and Annette M. Payne and Martin J. Warren and Shomi Shanker Bhattacharya and Alan C. Bird},
  journal={Archives of ophthalmology},
  year={2001},
  volume={119 1},
  pages={96-105}
}
OBJECTIVE To describe the phenotype in 3 families with dominantly inherited cone and cone-rod dystrophy with mutations in guanylate cyclase activator 1A (GUCA1A), the gene-encoding guanylate cyclase activator protein-1 (GCAP-1). METHODS Phenotypic characterization with psychophysical and electrophysiological evaluation and confocal laser scanning ophthalmoscopy was performed in 2 families with a Tyr99Cys mutation and 1 family with a Pro50Leu mutation. Haplotype analysis was performed in the… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 55 extracted citations

Genetic modifiers and oligogenic inheritance.

Cold Spring Harbor perspectives in medicine • 2015

References

Publications referenced by this paper.
Showing 1-10 of 40 references

Detailed localization of GCAP1 and GCAP2 in human, monkey, and bovine retinas [abstract

S Kachi, A Dizhoor, +3 authors J. Usukura
Invest Ophthalmol Vis Sci • 1998

Similar Papers

Loading similar papers…