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