Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
Ausenda
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Department of Internal Medicine-University of Milan, Centro Anemie Congenite-Maggiore Policlinico, Mangiagalli and Regina Elena Hospital IRCCS. Via F.Sforza, 35 20122 Milan, Italy.
Di Pierro
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Brancaleoni
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Besana
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Cappellini
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D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D005420:Flavoproteins / Q000235:genetics*; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics*; D020125:Mutation, Missense; D046350:Porphyria, Variegate / Q000201:enzymology* / Q000235:genetics*; D050768:Protoporphyrinogen Oxidase / Q000235:genetics*
D003062:Codon; D005420:Flavoproteins; D024101:Mitochondrial Proteins; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase