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Article

Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.

Molecular genetics and metabolism - 1 Apr 2012

Méndez Manuel, Rossetti María Victoria, Gómez-Abecia Sara, Morán-Jiménez María-Josefa, Parera Victoria, Batlle Alcira, Enríquez de Salamanca Rafael

Abstract excerpt

Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidation of uroporphyrinogen and other highly carboxylated porphyrinogens overproduced as a result of...

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Identifiers

PMID: 22382040
DOI: 10.1016/j.ymgme.2012.02.002

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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Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.PMID 22382040Read ↗

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