title: Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.
authors.affiliation: FG, IRCCS Hospital CSS, San Giovanni Rotondo, Italy. mg.savino@operapadrepio.it
authors.forename: Maria
authors.initials: M
authors.lastname: Savino
authors.forename: Maria
authors.initials: M
authors.lastname: Garrubba
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Zelante
authors.forename: Filippo
authors.initials: F
authors.lastname: Aucella
authors.forename: Claudio Carmine
authors.initials: CC
authors.lastname: Guida
authors.forename: Stefano Angelo
authors.initials: SA
authors.lastname: Santini
mesh_terms: D005091:Exons; D006801:Humans; D007438:Introns; D020125:Mutation, Missense; D017119:Porphyria Cutanea Tarda / Q000201:enzymology / Q000235:genetics*; D022821:RNA Splice Sites; D012326:RNA Splicing / Q000235:genetics; D014575:Uroporphyrinogen Decarboxylase / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D014575:Uroporphyrinogen Decarboxylase