Novel transglutaminase 1 gene mutations (R348X/Y365D) in a Japanese family with lamellar ichthyosis.
Kon
Atsushi
A
Takeda
Hitoshi
H
Sasaki
Hideyuki
H
Yoneda
Kozo
K
Nomura
Kazuo
K
Ahvazi
Bijan
B
Steinert
Peter M
PM
Hanada
Katsumi
K
Hashimoto
Isao
I
D000328:Adult; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D008297:Male; D009154:Mutation; D017433:Protein Structure, Secondary; D011503:Transglutaminases / Q000737:chemistry / Q000235:genetics*
D011503:Transglutaminases; C105804:transglutaminase 1