Article
A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII.
Journal of dermatological science - 1 Jul 2014
Nishie Wataru, Natsuga Ken, Nakamura Hideki, Ito Takamasa, Toyonaga Ellen, Sato Hidetsugu, Shimizu Hiroshi
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