Fig. 4.

Sanger sequencing chromatograms showing mutations. A. Patient 1 showing the homozygous mutation in genomic DNA (c.187C>T) and his parents showing it in a heterozygous fashion. B. Patient 2 showing exon 18 skipping in cDNA. C. Patient 2 showing a homozygous mutation in genomic DNA (c.2293C>T) and his parents showing it in a heterozygous fashion. The control sequence is from a healthy individual.