Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Maggiore Policlinico Hospital IRCCS, Italy. elena.dipierro@unimi.it
E
E
Di Pierro
V
V
Brancaleoni
M D
MD
Cappellini
D001483:Base Sequence; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D017118:Porphyria, Acute Intermittent / Q000235:genetics*; D014577:Uroporphyrinogens / Q000235:genetics*
D014577:Uroporphyrinogens; C024393:hydroxymethylbilane