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Br J Ophthalmol 2004;88:166
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New mutations in the PAX6 gene in patients with aniridia

Three novel mutations in the PAX6 gene have been found in patients with aniridia, adding to the data base of more than 200 different mutations in this gene.

Overall, aniridia has an incidence of about 1/80 000, and mutations in the PAX6 gene …

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