Figure 3 of Romero, Mol Vis 2008; 14:829-835.

Figure 3. Detection of the pathogenic mutation (R124C) in the proband. The DNA sequence around codon 124 of the TGFBI gene is presented. The sequence in the proband shows a heterozygous, single-base C to T transition at nucleotide 417 (R124C) in the sense strand. The codon numbers are indicated at the top of the figure.