Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Di Pierro
E
E
Department of Internal Medicine, University of Milan, Centro Anemie Congenite-Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy. elena.dipierro@unimi.it
Besana
V
V
Moriondo
V
V
Brancaleoni
V
V
Cappellini
M D
MD
D019943:Amino Acid Substitution; D001483:Base Sequence; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D020125:Mutation, Missense; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
D011163:Hydroxymethylbilane Synthase