Genetic heterogeneity among blue-cone monochromats.

@article{Nathans1993GeneticHA,
  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},
  year={1993},
  volume={53 5},
  pages={987-1000}
}
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

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