Epidermolysis bullosa pruriginosa with marked phenotypic heterogeneity caused by a recurrent glycine substitution: Incomplete penetrance or a latent case?
Noriko
N
Takiyoshi
Hajime
H
Nakano
Daisuke
D
Sawamura
D019943:Amino Acid Substitution; D001483:Base Sequence; D002648:Child; D024143:Collagen Type VII / Q000235:genetics; D004820:Epidermolysis Bullosa / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016108:Epidermolysis Bullosa Dystrophica; D005091:Exons; D005998:Glycine / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D020125:Mutation, Missense; D019683:Penetrance; D017422:Sequence Analysis, DNA
C569053:COL7A1 protein, human; D024143:Collagen Type VII; D005998:Glycine