
A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: Report of a Chinese family with intra-familial phenotypical diversity
Keywords: PEB, Pretibial epidermolysis bullosa; DDEB, dystrophic epidermolysis bullosa; DEB, Dystrophic epidermolysis bullosa; RDEB, Recessive dystrophic epidermolysis bullosa; AD, Autosomal dominant; DHPLC, denaturing high-performance liquid chromatographyPretibia