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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 cha...

Topics

Alleles
Base Sequence
DNA
DNA, Complementary
Finland
Humans
Hydroxymethylbilane Synthase
Molecular Sequence Data
Mutation
Polymorphism, Single-Stranded Conformational
Porphyria, Acute Intermittent
Transcription, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7757070
DOI: 10.1093/hmg/4.2.215

Genes

AIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7757070-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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