title: Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis.
authors.forename: M
authors.initials: M
authors.lastname: Akiyama
authors.forename: Y
authors.initials: Y
authors.lastname: Takizawa
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: A
authors.initials: A
authors.lastname: Ishiko
authors.forename: I
authors.initials: I
authors.lastname: Matsuo
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D005260:Female; D006579:Heterozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011503:Transglutaminases / Q000235:genetics* / Q000378:metabolism
chemical_list: D011503:Transglutaminases; C105804:transglutaminase 1