title: A novel G168X mutation and a recurrent 730-731delCT mutation of the porphobilinogen deaminase gene in Japanese patients with acute intermittent porphyria.
authors.forename: Shinji
authors.initials: S
authors.lastname: Susa
authors.forename: Makoto
authors.initials: M
authors.lastname: Daimon
authors.forename: Takeo
authors.initials: T
authors.lastname: Kato
authors.forename: Naoto
authors.initials: N
authors.lastname: Maeda
mesh_terms: D000328:Adult; D044466:Asian People; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D007564:Japan; D009154:Mutation; D017118:Porphyria, Acute Intermittent / Q000235:genetics*; D055815:Young Adult
chemical_list: D011163:Hydroxymethylbilane Synthase