A Japanese family with dominant pretibial dystrophic epidermolysis bullosa: Identification of a new glycine substitution in the triple-helical collagenous domain of type VII collagen.
Hamada
Takahiro
T
Fukuda
Shunpei
S
Ishii
Norito
N
Abe
Toshifumi
T
Nagata
Keiji
K
Koro
Osamu
O
Hatano
Yuji
Y
Nakano
Hajime
H
Sawamura
Daisuke
D
Hashimoto
Takashi
T
D019943:Amino Acid Substitution / Q000235:genetics*; D001768:Blister / Q000473:pathology; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis / Q000235:genetics* / Q000648:ultrastructure; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D046529:Microscopy, Electron, Transmission; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017433:Protein Structure, Secondary / Q000235:genetics; D017434:Protein Structure, Tertiary / Q000235:genetics
D024143:Collagen Type VII