Article
Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.
The British journal of dermatology - 1 May 2007
Pasmooij A M G, Pas H H, Jansen G H L, Lemmink H H, Jonkman M F
Abstract excerpt
BACKGROUND: Mutations in the gene COL17A1 coding for type XVII collagen cause non-Herlitz junctional epidermolysis bullosa (nH-JEB). OBJECTIVES: Here we give an overview of the genotype-phenotype correlation in 12 patients from the Netherlands with type XVII collagen-deficient nH-JEB. PATIENT AND METHODS: Family and personal history and clinical presentation were recorded from each patient, and skin biopsies of...
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