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. 2010 May;12(3):377–379. doi: 10.2353/jmoldx.2010.090145

Figure 2.

Figure 2

Partial sequence of exon 74 of the COL7A1 gene revealed a single cytosine deletion in a heterozygous mode in the parents (A) and homozygous mode in their affected daughter (B). This frameshift mutation at codon 2090 (C) creates a stop codon at codon 2116, which may cause a truncated gene product.