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Although various types of mutations have been identified in COL7A1 of patients with RDEB, there is no evidence for hot spot mutations in this gene. In this study, we performed mutation analysis in COL7A1 of 15 unrelated Japanese RDEB patients, and we have identified two common mutations in exon 81 (6576+1 G to C) and in exon 116 (8572 G to T). Four out of the 15 patients share the former mutation...