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.

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Liu, Mol Vis 2007; 13:360-365 <>
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