Fig. 4.

Identification of the mutations in COL7A1 in patient. Direct sequencing of the patient PCR product revealed G to T transition at position 8569 (A). As a result, the codon for Glu (GAG) is changed to a codon for stop (TAG). This mutation was confirmed by restriction enzyme, XspI (C). Schematic representation of the domain structure of procollagen VII and the location of the premature stop codon (E2857X) in exon 116 (D). Cysteine residues are marked as a "C", and an asterisk (*) shows the procollagen C-proteinase cleavage site.