Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.
Llewellyn
D H
DH
Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
Whatley
S
S
Elder
G H
GH
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*
D017931:DNA Primers; D006639:Histidine; D001120:Arginine; D011163:Hydroxymethylbilane Synthase