Genetic heterogeneity among blue-cone monochromats.

  title={Genetic heterogeneity among blue-cone monochromats.},
  author={Jeremy Nathans and Irene Hussels Maumenee and Eberhart Zrenner and Bettina Sadowski and Lindsay T. Sharpe and Richard Alan Lewis and E M Hansen and Thomas Rosenberg and Marianne Schwartz and John R. Heckenlively},
  journal={American journal of human genetics},
  volume={53 5},
Thirty-three unrelated subjects with blue-cone monochromacy or closely related variants of blue-cone monochromacy were examined for rearrangements in the tandem array of genes encoding the red- and green-cone pigments. In 24 subjects, eight genotypes were found that would be predicted to eliminate the function of all of the genes within the array. As observed in an earlier study, the rearrangements involve either deletion of a locus control region adjacent to the gene array or loss of function… CONTINUE READING


Publications citing this paper.
Showing 1-10 of 58 extracted citations

Advances in understanding the molecular basis of the first steps in color vision.

Progress in retinal and eye research • 2015
View 10 Excerpts
Highly Influenced

Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster

Graefe's Archive for Clinical and Experimental Ophthalmology • 2004
View 4 Excerpts
Highly Influenced

The genetics of normal and defective color vision

Vision Research • 2011
View 9 Excerpts
Highly Influenced

X-linked cone dystrophy caused by mutation of the red and green cone opsins.

American journal of human genetics • 2010
View 5 Excerpts
Highly Influenced

Similar Papers

Loading similar papers…