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.