title: Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.
authors: Centro de Investigaciones sobre Porfirinas y Porfirias, CONICET and Fac. Ciencias Exactas y Naturales, University of Buenos Aires, Argentina.
authors: A
authors: A
authors: De Siervi
authors: V E
authors: VE
authors: Parera
authors: A M
authors: AM
authors: del C Batlle
authors: M V
authors: MV
authors: Rossetti
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D005420:Flavoproteins; D006639:Histidine / Q000235:genetics; D006801:Humans; D007930:Leucine / Q000235:genetics; D024101:Mitochondrial Proteins; D020125:Mutation, Missense / Q000235:genetics*; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D017094:Porphyrias, Hepatic / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D011392:Proline / Q000235:genetics; D050768:Protoporphyrinogen Oxidase; D014633:Valine / Q000235:genetics
chemical_list: D005420:Flavoproteins; D024101:Mitochondrial Proteins; D006639:Histidine; D011392:Proline; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase; D007930:Leucine; D014633:Valine