Figure 3. Results of direct sequence analysis of exon 4 of TGFBI in the region encompassing codon 124. The asterisk indicates that the first base of codon 124 in affected family members showed both red (T) and violet (C) peaks resulting in a single base-pair transition leading to an amino acid substitution, Arg124Cys (bottom panel). No equivalent mutation was detected in the control subjects (top panel).