Article
Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen.
The British journal of dermatology - 1 Sept 2004
Pasmooij A M G, van der Steege G, Pas H H, Smitt J H Sillevis, Nijenhuis A M, Zuiderveen J, Jonkman M F
Abstract excerpt
BACKGROUND: Mutations in COL17A1, coding for type XVII collagen, cause junctional epidermolysis bullosa with an ultrastructural plane of cleavage through the lamina lucida of the epidermal basement membrane. OBJECTIVES: To identify the COL17A1 mutations in a child with reduced type XVII collagen expression and intraepidermal blister formation. PATIENT AND METHODS: Protein expression and level of tissue separation...
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