Article
Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene.
Human genetics - 1 Oct 1990
Scobie G A, Llewellyn D H, Urquhart A J, Smyth S J, Kalsheker N A, Harrison P R, Elder G H
Abstract excerpt
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.
Topics
- Codon
- Exons
- Humans
- Hydroxymethylbilane Synthase
- Mutation
- Nucleic Acid Hybridization
- Pedigree
- Polymerase Chain Reaction
- Porphyrias
- Restriction Mapping
- Skin Diseases