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. 1999 May 15;103(10):1371–1377. doi: 10.1172/JCI4338

Figure 3.

Figure 3

DNA from the proband’s epidermis overlying BM containing type XVII collagen is homozygous for 4003delTC and heterozygous for a second COL17A1 mutation, 4080insGG. (a) Direct nucleotide sequencing of PCR-amplified exon 52 from normal epidermis (top) shows the expected sequence. Patient epidermis overlying BM staining positive for type XVII collagen shows base ambiguities beginning at nucleotide 4080 in the cDNA (bottom). (b) Clones of the PCR product in a show either 4003delTC, followed by the expected sequence (i.e., no insertion; top), or 4003delTC in combination with 4080insGG (bottom).