Publication | Open Access

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

Skin DevelopmentCoiled-coil DomainGenetic DisorderGeneticsBpag1 UnderliesMolecular GeneticsDystonin Gene CodingDermatologyGene ExpressionMedicine