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Missense Mutation in the Alternative Splice Region of the PAX6 Gene in Eye Anomalies

✍ Scribed by Noriyuki Azuma; Yuki Yamaguchi; Hiroshi Handa; Mutsuko Hayakawa; Atsushi Kanai; Masao Yamada


Book ID
117852957
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
839 KB
Volume
65
Category
Article
ISSN
0002-9297

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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