Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.
De Siervi
A
A
Centro de Investigaciones sobre Porfirinas y Porfirias, CONICET and Fac. Ciencias Exactas y Naturales, University of Buenos Aires, Argentina.
Parera
V E
VE
del C Batlle
A M
AM
Rossetti
M V
MV
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
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