Article
Eye anomalies and neurological manifestations in patients with PAX6 mutations.
Molecular vision - 22 Oct 2009
Chien Yin-Hsuan, Huang Hsiang-Po, Hwu Wuh-Liang, Chien Yin-Hsiu, Chang Tseng-Ching, Lee Ni-Chung
Abstract excerpt
PURPOSE: Mutations in the paired box 6 (PAX6)gene cause a wide variety of eye anomalies, including aniridia. PAX6 mutations are not well described in the Chinese population so this study is aimed at exploring the role of PAX6 mutations in Taiwanese patients with congenital eye anomalies. METHODS: Seventeen patients with single or multiple congenital eye anomalies were enrolled. Genomic DNA was prepared from...
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