Figure 2. Characterization of the c.1663-5T>G splicing mutation

Analysis of RT-PCR products obtained from heterologous expression of minigene constructs in COS7 cells. A: Sequence traces of RT-PCR products obtained from COS7 cells transfected with wildtype (top) and mutant plasmid constructs (bottom). B: Scheme of the aberrant splicing caused by the c.1663-5T>G mutation.