Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families

Hum Genet. 1997 Jul;100(1):63-6. doi: 10.1007/s004390050466.


A total of 12 mutations associated with acute intermittent porphyria (AIP) have been detected in the porphobilinogen deaminase gene in Swedish AIP families. Three of them are newly discovered and unique to the Swedish population: a splice mutation in intron 6 (int6+1), a missense mutation in exon 11 (Gly216Asp) and a TG deletion in exon 14.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exons
  • Frameshift Mutation
  • Humans
  • Hydroxymethylbilane Synthase / genetics*
  • Introns
  • Mutation*
  • Porphyria, Acute Intermittent / enzymology
  • Porphyria, Acute Intermittent / genetics*
  • RNA Splicing
  • Sequence Deletion
  • Sweden


  • Hydroxymethylbilane Synthase