Figure 2.

A: 2% agarose gel electrophoresis (ethidium bromide stained) of amplified cDNA fragment spanning exons 13 to 17, in the patients (P) and a normal control (N). The 484-bp fragment lacks of 230 nucleotides of exon 15. B: Sequence analysis of patient's cDNA showing the skipping of 230 bp of exon 15. C: Patient's amino acids residues of exons 15 to 16 showing that the downstream exonic sequence is in frame. Exon 16 amino acids residues are underlined.