A. DNA sequence chromatogram at the splice junction between exon 9 and intron 9. Donor site is in a box and IVS9+5G>A mutation is indicated by an arrow. Genomic structure from the region including exons 8 and 10 with exons in boxes and introns printed as broken lines. B. The two normal splice variants 9 (exons 8-9-9A-10), 9A (exons 8-9A-10) and the abnormal variant missing exon 9 (exons 8–10). RT-PCR products on 6% PAGE are indicated by horizontal arrows. M: 100 bp DNA Ladder (New England Biolabs), p: patient sample and n: normal samples. The 336 bp abnormal product is quite evident in the patient sample. C. Chromatogram showing sequence of the abnormal transcript. Vertical line in chromatogram showing the abnormal junction between exons 8 and 10 while the box indicates the STOP signal created by the frameshift.