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Article

Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.

Gene - 10 Jun 2013

Gómez-Abecia Sara, Morán-Jiménez María-Josefa, Ruiz-Casares Eva, Henriques-Gil Nuno, García-Pastor Inmaculada, Garrido-Astray María-Concepción, Enríquez de Salamanca Rafael, Méndez Manuel

Abstract excerpt

Porphyria cutanea tarda (PCT) results from decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. Deficiency in this enzyme results in accumulation of highly carboxylated porphyrins responsible for the disease. PCT usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis. Familial PCT (F-PCT) occurs in 20-30% of...

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Identifiers

PMID: 23545314
DOI: 10.1016/j.gene.2013.03.074

Genes

UROD

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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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