A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.
Kazuko C
KC
Sato-Matsumura
Daisuke
D
Sawamura
Mikio
M
Goto
Maki
M
Goto
Hideki
H
Nakamura
Hiroshi
H
Shimizu
D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011347:Procollagen / Q000235:genetics*
D024143:Collagen Type VII; D011347:Procollagen