L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma.
Kon
A
A
Department of Biochemistry, Aomori Prefectural Central Hospital, Aomori, Japan.
Ito
N
N
Kudo
Y
Y
Nomura
K
K
Yoneda
K
K
Hanada
K
K
Hashimoto
I
I
Takagaki
K
K
D000328:Adult; D001483:Base Sequence; D006801:Humans; D007564:Japan; D053534:Keratin-9 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
C507440:KRT9 protein, human; D053534:Keratin-9