Case Reports
doi: 10.1111/j.1365-2133.1984.tb04687.x.
Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family
- PMID: 6722030
- DOI: 10.1111/j.1365-2133.1984.tb04687.x
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Case Reports
Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family
Br J Dermatol.
1984 May.
Abstract
A patient with hepatoerythropoietic porphyria (HEP) is described. He was shown by a family study to be homozygous for a gene that causes greater than 95% suppression of erythrocyte uroporphyrinogen decarboxylase activity.
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