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Article

Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.

The Journal of investigative dermatology - 1 Nov 2000

Brady J J, Jackson H A, Roberts A G, Morgan R R, Whatley S D, Rowlands G L, Darby C, Shudell E, Watson R, Paiker J, Worwood M W, Elder G H

Abstract excerpt

Porphyria cutanea tarda is a skin disease caused by photosensitization by porphyrins whose accumulation is caused by deficiency of hepatic uroporphyrin- ogen decarboxylase activity. Mutations in the uroporphyrinogen decarboxylase gene are present in the low-penetrant, autosomal dominant familial form but not in the commoner sporadic form of porphyria cutanea tarda. We have investigated the relationship between...

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PMID: 11069625
DOI: 10.1046/j.1523-1747.2000.00148.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.PMID 11069625Read ↗

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