Figure 1.

Sequences of wild-type (755-G) and mutant (755-T) COL3A1 cDNA derived from skin fibroblasts. Because the patient with vEDS patient is heterozygous for COL3A1 c.755G>T mutation, sequencing of the region harboring the mutation results in detection of both guanine and thymidine at position 755. The G>T mutation leads to an exchange from valine to glycine on the protein level.