Figure 2 of Rauf, Mol Vis 2020; 26:14-25.

Figure 2. Bidirectional Sanger sequencing identified pathogenic mutations in LTBP2. Forward and reverse sequence chromatograms. A: Affected individual 7 of PKGL076 homozygous for a novel missense mutation c.3028G>A (p.Asp1010Asn). B: Unaffected individual 5 heterozygous carrier of PKGL076 for c.3028G>A (p.Asp1010Asn). C: Affected individual 15 of PKGL015 homozygous for a novel frameshift mutation c.3427delC (p.Gln1143Argfs*35). D: Unaffected individual 11 heterozygous carrier of PKGL015 for c.3427delC (p.Q1143Rfs*35). E: Affected individual 9 of PKGL042 homozygous for a novel missense mutation c.5270G>A (p.Cys1757Tyr). F: Unaffected individual 14 heterozygous carrier of PKGL042 for c.5270G>A (p.Cys1757Tyr).