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A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz Junctional Epidermolysis Bullosa

Connective Tissue DiseaseCutaneous BiologyUnusually Mild FormSpliced Mrna AccountingDermatologyDermatopathologyMatrix BiologyMedicineCell BiologyExtracellular MatrixHomozygous Nonsense Mutation