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Abstract |
A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa |
Background: Epidermolysis bullosa pruriginosa (DEB-Pr) is a rare disease caused by mutations in the collagen, type VII, alpha 1 (COL7A1) gene. Here, we identified a novel COL7A1 mutation in a Chinese family with DEB-Pr. |