A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe palmoplantar hyperkeratosis and contractures of the digits.
Muramatsu
S
S
Suga
Y
Y
Mizuno
Y
Y
Hasegawa
T
T
Tsuchihashi
H
H
Matsuba
S
S
Kohroh
K
K
Yaguchi
H
H
Ogawa
H
H
D000328:Adult; D001483:Base Sequence; D003286:Contracture / Q000235:genetics*; D005385:Fingers; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics*; D007633:Keratins / Q000235:genetics*; D008297:Male; D009154:Mutation; D011392:Proline / Q000235:genetics; D013912:Threonine / Q000235:genetics
D013912:Threonine; D007633:Keratins; D011392:Proline