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Dystrophic epidermolysis bullosa (DEB) is an inherited mechanobullous disorder characterized by fragility of the skin and mucous membranes. The anchoring fibril protein, type VII collagen, is encoded by COL7A1, which harbors mutations in this group of diseases. In this study, we report novel glycine substitution mutations in COL7A1 in two Japanese families with DEB. The mutation detection strategy...
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