Publication | Open Access

A Combination of a Common Splice Site Mutation and Frameshift Mutation in the COL7A1 Gene: Absence of Functional Collagen VII in Keratinocytes and Skin

FibrosisCutaneous BiologyCol7a1 GeneFrameshift MutationDermatologyDermatopathologyFunctional Collagen ViiMedicineCell BiologyExperimental DermatologyFibroblast Biology