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Human Genetics

, Volume 100, Issue 1, pp 63–66 | Cite as

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

  • Gunnel Lundin
  • Jin-Sung Lee
  • Stig Thunell
  • M. Anvret
Original investigation

Abstract

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.

Keywords

Missense Mutation Porphyria Swedish Population Genetic Investigation Splice Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Gunnel Lundin
    • 1
  • Jin-Sung Lee
    • 2
  • Stig Thunell
    • 3
  • M. Anvret
    • 1
  1. 1.Department of Molecular Medicine/Clinical Genetics, Karolinska Hospital, S-171 76 Stockholm, Sweden Tel.: +46-8-51773931; Fax: +46-8-327734 e-mail: manv@gen.ks.seSE
  2. 2.Department of Pediatrics, Yonsei University, College of Medicine, C.P.O. Box 8044, Seoul, KoreaKR
  3. 3.Porphyria Centre Sweden, St. Göran’s Hospital, S-112 81 Stockholm, SwedenSE

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