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. 1995 Dec;32(12):979–981. 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 1, Y Floderus 1, S Thunell 1, E Sagen 1, A Laegreid 1, W Wassif 1, T Peters 1, M Anvret 1
PMCID: PMC1051782  PMID: 8825929

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).

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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