title: Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
authors.affiliation: Department of Pediatrics, Charles University, 1st Faculty of Medicine, Prague, Czech Republic. dana.u@email.cz
authors.forename: Dana Ulbrichova
authors.initials: DU
authors.lastname: Douderova
authors.forename: Jiri
authors.initials: J
authors.lastname: Zeman
authors.forename: Pavel
authors.initials: P
authors.lastname: Martasek
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D016254:Mutagenesis, Insertional; D017118:Porphyria, Acute Intermittent / Q000201:enzymology / Q000235:genetics*
chemical_list: D003062:Codon; D011163:Hydroxymethylbilane Synthase