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Article

Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations.

Scandinavian journal of clinical and laboratory investigation - 1 Jan 2005

Christiansen L, Brøns-Poulsen J, Hørder M, Brock A, Petersen N E

Abstract excerpt

The functional consequence of six uroporphyrinogen decarboxylase (UROD) gene mutations found in Danish patients with familial porphyria cutanea tarda was investigated. Wild-type UROD and the 6 mutants (3 missense, 1 nonsense and 2 frameshift mutants) were cloned and expressed using the prokaryotic gGEX-6P system, in which the protein is produced in fusion with glutathione S-transferase (GST). Enzymatic activity...

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Identifiers

PMID: 16095052
DOI: 10.1080/00365510510013631

Genes

UROD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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