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

doi:10.1136/jmg.32.12.979

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Article

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

Journal of medical genetics - 1 Dec 1995

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

Abstract excerpt

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 ex...

Topics

Acute Disease
Base Sequence
DNA Primers
Female
Humans
Hydroxymethylbilane Synthase
Male
Molecular Sequence Data
Mutation
Pedigree
Porphyrias
RNA Splicing

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