Figure 3. Single base substitution mutations detected in PAX6. One known (c.607C>T) and four novel (c.764A>G, c.10+1G>A, c.141G>A, and c.141+4A>G) point mutations were found in five unrelated
families with aniridia. A–E: Pedigrees and sequence chromatograms of the mutant and normal controls. The exact mutations in the chromatograms are indicated
by the black arrows.