title: Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis.
authors.affiliation: Department of Dermatology, Kurume University School of Medicine and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Sanae
authors.initials: S
authors.lastname: Numata
authors.affiliation: Department of Dermatology, Kurume University School of Medicine and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Kwesi
authors.initials: K
authors.lastname: Teye
authors.affiliation: Department of Dermatology, Kurume University School of Medicine and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Karashima
authors.affiliation: Department of Dermatology, Kurume University School of Medicine and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Matsuda
authors.affiliation: Department of Dermatology, Kurume University School of Medicine and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Hamada
authors.affiliation: Department of Dermatology, Kurume University School of Medicine and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: D000818:Animals; D019556:COS Cells; D002522:Chlorocebus aethiops; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D020125:Mutation, Missense; D011503:Transglutaminases / Q000235:genetics*
chemical_list: D011503:Transglutaminases; C105804:transglutaminase 1
keywords: autosomal recessive congenital ichthyosis; functional study; missense mutation; transglutaminase 1