Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins.

@article{Martha1994PairedBM,
  title={Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins.},
  author={Arua Martha and Robert E. Ferrell and Helen A. Mintz-Hittner and L. A. Lyons and Grady F. Saunders},
  journal={American journal of human genetics},
  year={1994},
  volume={54 5},
  pages={801-11}
}
Aniridia, an autosomal dominant ocular disorder characterized by iris hypoplasia, results from mutations in the PAX6 gene, which encodes paired box and homeobox motifs. In this report we describe five new mutations in the paired box region of the human PAX6 gene that are associated with aniridia. The paired box mutations that we detected were in both familial (three) and sporadic (two) cases. All five mutations predict truncated PAX6 proteins. Our study indicates that early premature… CONTINUE READING

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