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J Med Genet. 1995 Dec;32(12):979-81.

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

Author information

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).

PMID:
8825929
PMCID:
PMC1051782
DOI:
10.1136/jmg.32.12.979
[Indexed for MEDLINE]
Free PMC Article

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