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Article

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

Human genetics - 1 Jul 1997

Lundin G, Lee J S, Thunell S, Anvret M

Abstract excerpt

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.

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Identifiers

PMID: 9225970
DOI: 10.1007/s004390050466

Genes

AIP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.PMID 9225970Read ↗

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