title: Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous.
authors: University of Milan, IRCCS Foundation Maggiore Hospital, Mi, Via F.Sforza, 35, 20122, Milan, Italy.
authors: Valentina
authors: V
authors: Brancaleoni
authors: E
authors: E
authors: Dipierro
authors: S
authors: S
authors: Ausenda
authors: V
authors: V
authors: Besana
authors: M D
authors: MD
authors: 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