Figure 4. RT-PCR products with primers in exon 8 and 9.

(A) Schematic representation of normally spliced mRNA, (B) Aberrantly spliced mRNA. In the gel electrophoresis we can observe absence of splicing in the mutated patient (column M). In the WT sequence (column WT), splicing was not complete. *Non-spliced fragment, **spliced fragment.