Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
Di Pierro
Elena
E
Internal Medicine, Maggiore Policlinico Foundation IRCCS-University of Milan, Milano, Italy. elena.dipierro@unimi.it
Brancaleoni
V
V
Stanzial
F
F
Benedicenti
F
F
Castellan
C
C
Cappellini
M D
MD
D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
D003062:Codon; D009711:Nucleotides; D011163:Hydroxymethylbilane Synthase