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Article

Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.

Scandinavian journal of clinical and laboratory investigation - 1 Nov 2000

Christiansen L, Bygum A, Jensen A, Brandrup F, Thomsen K, Horder M, Petersen N E

Abstract excerpt

Decreased uroporphyrinogen decarboxylase (UROD) activity is a characteristic feature of the most common of the porphyrias, porphyria cutanea tarda (PCT). A subgroup of the clinically overt PCT cases is associated with mutations in the gene encoding UROD and inherited as an autosomal-dominant trait. In this study, DNAs from 53 Danish PCT patients were subjected to genetic analysis for UROD mutations using...

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Identifiers

PMID: 11202053
DOI: 10.1080/003655100448365

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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