A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa.
Sawamura
D
D
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan. smartdai@med.hokudai.ac.jp
Nizeki
H
H
Miyagawa
S
S
Shinkuma
S
S
Shimizu
H
H
D000328:Adult; D001483:Base Sequence; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012867:Skin / Q000648:ultrastructure
D024143:Collagen Type VII