A recurrent %26apos;hot spot%26apos; glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen

作者:Nishie Wataru*; Natsuga Ken; Nakamura Hideki; Ito Takamasa; Toyonaga Ellen; Sato Hidetsugu; Shimizu Hiroshi
来源:Journal of Dermatological Science, 2014, 75(1): 69-71.
DOI:10.1016/j.jdermsci.2014.04.006