Figure 3 of
Liu, Mol Vis 2007;
13:360-365.
Figure 3. DNA sequence chromatograms of the unaffected and affected members in the family
A single transition was observed at position 2464 (C>T) of COL1A1, causing a substitution of Gln to a stop codon at codon 644 (Q644X). This resulted in a truncated protein.