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

19 June 1997

journal article
research article
Published by Springer Nature in Human Genetics

Vol. 100 (1) , 63-66
https://doi.org/10.1007/s004390050466

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

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