Figure 3 of Cao, Mol Vis 2009; 15:70-75.


Figure 3. Sequence analysis of TGFBI exon 4 in this family. A: A normal sequence is shown, which encodes arginine in codon 124. B: The proband had homozygous substitutions at nucleotide position c.371G>A, which results in a arginine to histidine acid substitution (R124H). C: The proband’s father had a heterozygous mutation of R124H at the same position.