Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
Di Pierro
E
E
Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Maggiore Policlinico Hospital IRCCS, Italy. elena.dipierro@unimi.it
Besana
B
B
Cappellini
M D
MD
D019943:Amino Acid Substitution; D006801:Humans; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics*; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
D009363:Neoplasm Proteins; C104746:HMC protein, human