A deletion 3' to the PAX6 gene in familial aniridia cases.

  title={A deletion 3' to the PAX6 gene in familial aniridia cases.},
  author={Angela Valentina D'elia and Lucia Pellizzari and Dora Fabbro and Annalisa Pianta and Maria Teresa Divizia and Rosanna Rinaldi and Barbara Grammatico and Paola Grammatico and Carlo Arduino and Giuseppe Damante},
  journal={Molecular vision},
PURPOSE PAX6 mutations cause aniridia as well as other various congenital eye abnormalities. Aniridia can be due to both point mutations and chromosomal deletions/rearrangements. Therefore, a complete search for PAX6 gene alterations in aniridia subjects requires a technically complex approach involving the comprehension of fluorescence in situ hybridization (FISH) analysis. In the present study, an Italian casistic of aniridia patients has been investigated and a quantitative polymerase chain… CONTINUE READING


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