Gene symbol: HBMS. Disease: Porphyria, acute intermittent.
Di Pierro
E
E
Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Milan, Italy. elena.dipierro@unimi.it
Roselli
E A
EA
Cappellini
M D
MD
D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D017118:Porphyria, Acute Intermittent / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
D018389:Codon, Nonsense