title: Gene symbol: HBMS. Disease: Porphyria, acute intermittent.
authors.affiliation: Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Milan, Italy. elena.dipierro@unimi.it
authors.forename: E
authors.initials: E
authors.lastname: Di Pierro
authors.forename: E A
authors.initials: EA
authors.lastname: Roselli
authors.forename: M D
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D017118:Porphyria, Acute Intermittent / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense