title: Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.
authors.affiliation: Dipartimento di Medicina Interna, Fondazione Ospedale Maggiore Policlinico MARE IRCCS-Università degli Studi di Milano, Milano, Italy. labporfirie@policlinico.mi.it
authors.forename: Valentina
authors.initials: V
authors.lastname: Brancaleoni
authors.forename: Elena
authors.initials: E
authors.lastname: Di Pierro
authors.forename: Valeria
authors.initials: V
authors.lastname: Moriondo
authors.forename: Athos
authors.initials: A
authors.lastname: Borghi
authors.forename: Carla
authors.initials: C
authors.lastname: Sardini
authors.forename: Paolo
authors.initials: P
authors.lastname: Ventura
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D006801:Humans; D017119:Porphyria Cutanea Tarda / Q000201:enzymology / Q000235:genetics*; D017384:Sequence Deletion; D014575:Uroporphyrinogen Decarboxylase / Q000235:genetics*
chemical_list: D003062:Codon; D014575:Uroporphyrinogen Decarboxylase