Figure 3. Novel PAX6 deletion in exon 9

Partial DNA sequence of PAX6 exon nine from a normal control (top) and from the mutant allele subcloned into the pGEM-T vector (bottom). The sequence of 15 nucleotides deleted is boxed (including the GT splicing signal), and the last six nucleotides of exon nine are overlined in red. With the deletion of the original GT splicing signal, a new GT splicing signal (asterisk) is found three codons downstream.