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Article

Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.

Human molecular genetics - 1 Feb 1995

Kauppinen R, Mustajoki S, Pihlaja H, Peltonen L, Mustajoki P

Abstract excerpt

The sensitivity of single-strand conformation polymorphism (SSCP) analysis for the detection of mutations in the porphobilinogen deaminase (PBGD) gene among Finnish patients with acute intermittent porphyria (AIP) was studied. 13 novel mutations including one de novo event, and six previously characterized mutations were identified among AIP patients. The 19 mutations reported here for 28 families cover 72% of...

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PMID: 7757070
DOI: 10.1093/hmg/4.2.215

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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