title: Novel human pathological mutations. Gene symbol: HMBS. Disease: Acute intermittent porphyria.
authors.affiliation: Department of Pediatrics and Center for Applied Genomics, 1st School of Medicine, Charles University, Prague, Czech Republic. dana.u@email.cz
authors.forename: Dana
authors.initials: D
authors.lastname: Ulbrichova
authors.forename: Rivka
authors.initials: R
authors.lastname: Mamet
authors.forename: Gabriel
authors.initials: G
authors.lastname: Munter
authors.forename: Pavel
authors.initials: P
authors.lastname: Martasek
authors.forename: Nili
authors.initials: N
authors.lastname: Schoenfeld
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D016254:Mutagenesis, Insertional; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
chemical_list: D003062:Codon; D011163:Hydroxymethylbilane Synthase