Figure 4.

Top: Post transfection PCR products of the minigene construct for IVS31. Lanes 1 and 2 = IVS31-1g>c (mutant); Lane 3 = IVS31-1g (wildtype); Lane 4 = untransfected control; Lane 5 = 50 bp ladder. Bottom: Sequence of aberrant product B containing Exon 31, activation of a cryptic splice site with inclusion of a potion of intron 31 (31 base-pairs), and retention of Exon 32.