title: Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.
authors.affiliation: Second Department of Internal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan. nmaeda@grape.med.tottori-u.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Maeda
authors.forename: Y
authors.initials: Y
authors.lastname: Horie
authors.forename: Y
authors.initials: Y
authors.lastname: Sasaki
authors.forename: K
authors.initials: K
authors.lastname: Adachi
authors.forename: E
authors.initials: E
authors.lastname: Nanba
authors.forename: K
authors.initials: K
authors.lastname: Nishida
authors.forename: R
authors.initials: R
authors.lastname: Saigo
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: H
authors.initials: H
authors.lastname: Kawasaki
authors.forename: Y
authors.initials: Y
authors.lastname: Kudo
authors.forename: M
authors.initials: M
authors.lastname: Kondo
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D004247:DNA / Q000097:blood; D018076:DNA, Complementary / Q000032:analysis; D005260:Female; D005420:Flavoproteins; D005820:Genetic Testing; D006801:Humans; D007564:Japan; D008297:Male; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010088:Oxidoreductases / Q000737:chemistry / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017094:Porphyrias, Hepatic / Q000235:genetics*; D050768:Protoporphyrinogen Oxidase; D016415:Sequence Alignment
chemical_list: D018076:DNA, Complementary; D005420:Flavoproteins; D024101:Mitochondrial Proteins; D004247:DNA; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase