title: Gene symbol: HMBS. Disease: porphyria, acute intermittent.
authors.affiliation: Department of Internal Medicine, University of Milan, Centro Anemie Congenite-Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy. elena.dipierro@unimi.it
authors.forename: E
authors.initials: E
authors.lastname: Di Pierro
authors.forename: V
authors.initials: V
authors.lastname: Besana
authors.forename: V
authors.initials: V
authors.lastname: Brancaleoni
authors.forename: V
authors.initials: V
authors.lastname: Moriondo
authors.forename: M D
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D006657:Histones / Q000235:genetics; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D017118:Porphyria, Acute Intermittent / Q000235:genetics*; D017855:Transferases (Other Substituted Phosphate Groups) / Q000235:genetics
chemical_list: C468783:H2AX protein, human; D006657:Histones; D011163:Hydroxymethylbilane Synthase; D017855:Transferases (Other Substituted Phosphate Groups); C023222:UDPacetylglucosamine-dolichyl-phosphate acetylglucosamine-1-phosphate transferase