Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.
Sawamura
D
D
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan. smartdai@med.hokudai.ac.jp
Mochitomi
Y
Y
Kanzaki
T
T
Nakamura
H
H
Shimizu
H
H
D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D005998:Glycine / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D012867:Skin / Q000648:ultrastructure
D003062:Codon; D024143:Collagen Type VII; D005998:Glycine