title: Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
authors: Department of Internal Medicine- University of Milan, Centro Anemie Congenite-Maggiore Policlinico, Mangiagalli and Regina Elena Hospital IRCCS. Via F.Sforza, 35 20122 Milan, Italy. elena.dipierro@unimi.it
authors: E
authors: E
authors: Di Pierro
authors: V
authors: V
authors: Besana
authors: V
authors: V
authors: Brancaleoni
authors: S
authors: S
authors: Ausenda
authors: P
authors: P
authors: Lonati
authors: M D
authors: MD
authors: Cappellini
mesh_terms: D003062:Codon / Q000235:genetics; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D017118:Porphyria, Acute Intermittent / Q000201:enzymology* / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D003062:Codon; D011163:Hydroxymethylbilane Synthase