title: Gene symbol: HMBS. Disease: Acute intermittent porphyria.
authors.affiliation: Servicio de Bioquímica, Hospital Universitario La Paz, Madrid, Spain. csolis.hulp@salud.madrid.org
authors.forename: C S
authors.initials: CS
authors.lastname: Solis
authors.forename: Idoia
authors.initials: I
authors.lastname: Lopez-Echaniz
authors.forename: David
authors.initials: D
authors.lastname: Sefarty-Graneda
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Astrin
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Desnick
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D017118:Porphyria, Acute Intermittent / Q000201:enzymology* / Q000235:genetics*
chemical_list: D003062:Codon; D011163:Hydroxymethylbilane Synthase