Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
Ulbrichova
Dana
D
1st School of Medicine, Charles University of Prague, Department of Pediatrics, Ke Karlovu, 2, 12808 Prague 2, Czech Republic. dana.u@email.cz
Kurt
Ismail
I
Zeman
Jiri
J
Martasek
Pavel
P
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics*; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
D003062:Codon; D011163:Hydroxymethylbilane Synthase