Publication | Open Access

Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril Formation

New MutationsProtein FunctionMolecular BiologyMolecular GeneticsDermatologyMedicineExtracellular MatrixConnective Tissue Disease