title: Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
authors.affiliation: Internal Medicine, Maggiore Policlinico Foundation IRCCS-University of Milan, Milano, Italy. elena.dipierro@unimi.it
authors.forename: Elena
authors.initials: E
authors.lastname: Di Pierro
authors.forename: V
authors.initials: V
authors.lastname: Brancaleoni
authors.forename: F
authors.initials: F
authors.lastname: Stanzial
authors.forename: F
authors.initials: F
authors.lastname: Benedicenti
authors.forename: C
authors.initials: C
authors.lastname: Castellan
authors.forename: M D
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
chemical_list: D003062:Codon; D009711:Nucleotides; D011163:Hydroxymethylbilane Synthase