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Research Article
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
  1. G Lundin,
  2. J Hashemi,
  3. Y Floderus,
  4. S Thunell,
  5. E Sagen,
  6. A Laegreid,
  7. W Wassif,
  8. T Peters,
  9. M Anvret
  1. Department of Clinical Genetics/Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.

    Abstract

    We have detected four different mutations in the porphobilinogen deaminase (PBGD) gene in acute intermittent porphyria (AIP) families from England, Norway, and Sweden. A splicing mutation in the first position of intron 8 (Int8 + 1) was found in a family from England and a missense mutation in exon 12 (Glu250) was detected in a Norwegian family. Two mutations were identified in Swedish families, one splicing mutation in the first position of intron 3 (Int3 + 1) and one missense mutation in exon 8 (Pro119).

    https://doi.org/10.1136/jmg.32.12.979

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