title: Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene.
abstract: A mutation of the porphobilinogen (PBG) deaminase gene that produces the cross-reacting immunological material (CRIM)-negative type of acute intermittent porphyria (AIP) has been identified in one of 43 unrelated patients with this form of the disorder. The mutation is a C----T transition that abolishes a PstI recognition site in exon 9 of the gene and converts a codon for glutamine to a stop codon.
authors.affiliation: Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
authors.forename: G A
authors.initials: GA
authors.lastname: Scobie
authors.forename: D H
authors.initials: DH
authors.lastname: Llewellyn
authors.forename: A J
authors.initials: AJ
authors.lastname: Urquhart
authors.forename: S J
authors.initials: SJ
authors.lastname: Smyth
authors.forename: N A
authors.initials: NA
authors.lastname: Kalsheker
authors.forename: P R
authors.initials: PR
authors.lastname: Harrison
authors.forename: G H
authors.initials: GH
authors.lastname: Elder
mesh_terms: D003062:Codon / Q000737:chemistry*; D005091:Exons; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011164:Porphyrias / Q000235:genetics*; D015183:Restriction Mapping; D012871:Skin Diseases / Q000235:genetics*
chemical_list: D003062:Codon; D011163:Hydroxymethylbilane Synthase