Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1995 Dec;32(12):979-81.
doi: 10.1136/jmg.32.12.979.

Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria

G Lundin  1 , J Hashemi, Y Floderus, S Thunell, E Sagen, A Laegreid, W Wassif, T Peters, M Anvret
Affiliations

Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria

G Lundin et al. J Med Genet. 1995 Dec.

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).

PubMed Disclaimer

References

    1. Hum Mol Genet. 1995 Feb;4(2):215-22 - PubMed
    1. Eur J Clin Chem Clin Biochem. 1994 Dec;32(12):915-21 - PubMed
    1. Am J Hum Genet. 1991 Aug;49(2):421-8 - PubMed
    1. Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10912-5 - PubMed
    1. Hum Genet. 1992 Sep-Oct;90(1-2):12-6 - PubMed

Publication types