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Article

Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.

Human mutation - 1 Sept 2000

Mendez M, Rossetti M V, De Siervi A, del Carmen Batlle A M, Parera V

Abstract excerpt

Uroporphyrinogen decarboxylase (URO-D) deficiency is responsible for two forms of genetic cutaneous porphyria: familial porphyria cutanea tarda (f-PCT) and hepatoerythropoietic porphyria (HEP). The f-PCT transmitted as an autosomal dominant trait, is characterized by photosensitive cutaneous lesions frequently associated to hepatic dysfunction and is precipitated by various ecogenic factors. The HEP, transmitted...

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PMID: 10980536
DOI: 10.1002/1098-1004(200009)16:3<269::AID-HUMU12>3.0.CO;2-#

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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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Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.PMID 10980536Read ↗

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