title: Novel human pathological mutations. Gene symbol: CPOX. Disease: coproporphyria.
authors.affiliation: Dipartimento di Medicina Interna, Fondazione Ospedale Maggiore Policlinico MARE IRCCS-Università degli Studi di Milano, Milano, Italy. elena.dipierro@unimi.it
authors.forename: Elena
authors.initials: E
authors.lastname: DiPierro
authors.forename: Valentina
authors.initials: V
authors.lastname: Brancaleoni
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D046349:Coproporphyria, Hereditary / Q000201:enzymology / Q000235:genetics*; D003304:Coproporphyrinogen Oxidase / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D016254:Mutagenesis, Insertional
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D003304:Coproporphyrinogen Oxidase