title: A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.
authors.forename: J
authors.initials: J
authors.lastname: Frank
authors.forename: F K
authors.initials: FK
authors.lastname: Jugert
authors.forename: H F
authors.initials: HF
authors.lastname: Merk
authors.forename: K
authors.initials: K
authors.lastname: Kalka
authors.forename: G
authors.initials: G
authors.lastname: Goerz
authors.forename: K
authors.initials: K
authors.lastname: Anderson
authors.forename: D R
authors.initials: DR
authors.lastname: Bickers
authors.forename: M B
authors.initials: MB
authors.lastname: Poh-Fitzpatrick
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D001483:Base Sequence / Q000235:genetics; D005420:Flavoproteins; D006801:Humans; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010375:Pedigree; D011164:Porphyrias / Q000235:genetics*; D050768:Protoporphyrinogen Oxidase
chemical_list: D005420:Flavoproteins; D024101:Mitochondrial Proteins; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase