title: Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous.
authors.affiliation: Department of Internal medicine, University of Milan, Centro Anemie Congenite, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Fondazione IRCCS, Mi, Via F.Sforza, 35, 20122, Milano, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Brancaleoni
authors.forename: E
authors.initials: E
authors.lastname: Di Pierro
authors.forename: V
authors.initials: V
authors.lastname: Besana
authors.forename: S
authors.initials: S
authors.lastname: Ausenda
authors.forename: M D
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D017119:Porphyria Cutanea Tarda / Q000201:enzymology / Q000235:genetics*; D014575:Uroporphyrinogen Decarboxylase / Q000235:genetics*
chemical_list: D003062:Codon; D014575:Uroporphyrinogen Decarboxylase