Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene.
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.
Scobie
G A
GA
Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
Llewellyn
D H
DH
Urquhart
A J
AJ
Smyth
S J
SJ
Kalsheker
N A
NA
Harrison
P R
PR
Elder
G H
GH
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*
D003062:Codon; D011163:Hydroxymethylbilane Synthase