Inversa dystrophic epidermolysis bullosa is caused by missense mutations at specific positions of the collagenic domain of collagen type VII.
Chiaverini
Christine
C
Charlesworth
Alexandra V
AV
Youssef
Monia
M
Cuny
Jean-François
JF
Rabia
Smail H
SH
Lacour
Jean-Philippe
JP
Meneguzzi
Guerrino
G
D024143:Collagen Type VII / Q000737:chemistry / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D017434:Protein Structure, Tertiary / Q000235:genetics
D024143:Collagen Type VII