title: Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.
authors.affiliation: Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
authors.forename: D H
authors.initials: DH
authors.lastname: Llewellyn
authors.forename: S
authors.initials: S
authors.lastname: Whatley
authors.forename: G H
authors.initials: GH
authors.lastname: Elder
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D001665:Binding Sites; D017124:Conserved Sequence; D017931:DNA Primers; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006639:Histidine; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017118:Porphyria, Acute Intermittent / Q000097:blood / Q000201:enzymology* / Q000235:genetics*
chemical_list: D017931:DNA Primers; D006639:Histidine; D001120:Arginine; D011163:Hydroxymethylbilane Synthase