The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.
Hamada
T
T
Ishii
N
N
Kawano
Y
Y
Takahashi
Y
Y
Inoue
M
M
Yasumoto
S
S
Hashimoto
T
T
D001483:Base Sequence; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005192:Family Health; D006801:Humans; D007223:Infant; D007564:Japan; D053555:Keratin-5; D007633:Keratins / Q000235:genetics*; D008297:Male; D009154:Mutation; D010859:Pigmentation Disorders / Q000235:genetics*
C503940:KRT5 protein, human; D053555:Keratin-5; D007633:Keratins