Mutation Analyses of COL7A1 Gene in Three Taiwanese Patients with Severe Recessive Dystrophic Epidermolysis Bullosa
Dystrophic epidermolysis bullosa (DEB) is a hereditary mechanobullous disorder characterized by fragility of the skin and mucous membranes caused by Seat Wheel abnormal anchoring fibrils.Both dominant and recessive DEB are caused by mutations in COL7A1, the gene encoding type VII collagen, the major component of anchoring fibrils.We performed mutat