A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa.
Hou PC, Tu WT, Chen PC, Guevara BEK, Yen YF, Huang HY, Lee JY, Tang MJ, Kuo PL, Mcgrath JA, Hsu CK. A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa. Eur J Dermatol. 2021 Apr 01; 31(2):267-269.