Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.
Sato-Matsumura
Kazuko C
KC
Yasukawa
Kana
K
Tomita
Yuki
Y
Shimizu
Hiroshi
H
D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000150:complications / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009264:Nails, Malformed / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
D024143:Collagen Type VII; D005998:Glycine