Kroeger JK, Hofmann SC, Leppert J, Has C, Franzke CW. Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa. Hum Mol Genet. 2017 Feb 01;26(3):479–88. doi: 10.1093/hmg/ddw404. PMID: 28365758.
Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa