Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene.
Broekaert
Sigrid M C
SM
Knauss-Scherwitz
Evelin
E
Biedermann
Tilo
T
Metzler
Gisela
G
Has
Cristina
C
Kohlhase
Jürgen
J
Röcken
Martin
M
Schaller
Martin
M
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense
D024143:Collagen Type VII; D005998:Glycine