Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.
Matsuki
M
M
Department of Dermatology, Kyoto Prefectural University of Medicine, Japan.
Hashimoto
K
K
Yoshikawa
K
K
Yasuno
H
H
Yamanishi
K
K
D000595:Amino Acid Sequence; D001224:Aspartic Acid; D001483:Base Sequence; D017931:DNA Primers; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012016:Reference Values; D014633:Valine
D017931:DNA Primers; D001224:Aspartic Acid; D007633:Keratins; D014633:Valine