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Article

Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

Genome research - 1 Nov 1997

Mustajoki S, Kauppinen R, Mustajoki P, Suomalainen A, Peltonen L

Abstract excerpt

PCR-based solid-phase minisequencing method was used to analyze the steady-state mRNA levels of the porphobilinogen deaminase gene in eight patients with acute intermittent porphyria. The patients had the earlier characterized mutations 517C --> T (R173W), 518G --> A (R173Q), 673C --> G (R225G), 673C --> T (R225X), 713T --> G (L278P), and 1073delA (frame shift). All mutations, except the missense mutation 517C...

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Identifiers

PMID: 9371741
DOI: 10.1101/gr.7.11.1054

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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