Case of dominant dystrophic epidermolysis bullosa pruriginosa with a c.7868G>A (G2623D) mutation in type VII collagen.
Moyu
M
Yajima
Hajime
H
Nakano
Daisuke
D
Sawamura
Yoshiki
Y
Miyachi
Kenji
K
Kabashima
D017439:Cicatrix, Hypertrophic / Q000209:etiology; D024143:Collagen Type VII / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000150:complications / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011537:Pruritus / Q000209:etiology
C569053:COL7A1 protein, human; D024143:Collagen Type VII