Article
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
American journal of human genetics - 1 Sept 1999
Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M
Abstract excerpt
The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia. The gene encodes a transcriptional regulator that recognizes target genes through its paired-type DNA-binding domain. The paired domain is composed of two distinct DNA-binding subdomains,...
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