Missense mutations in the DNA-binding re
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Lian-Yu Chao; Rajnikant Mishra; Louise C. Strong; Grady F. Saunders
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Article
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2003
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John Wiley and Sons
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English
β 195 KB
We have identified nine novel intragenic mutations of the PAX6 gene in 30 patients with aniridia. One patient with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR syndrome) had deletion of 11p and had lost the paternal PAX6 allele. Two patients had small deletions: a fr