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1995•Journal of Investigative DermatologyOpen access

A Mutation (G281E) of the Human Uroporphyrinogen Decarboxylase Gene Causes Both Hepatoerythropoietic Porphyria and Overt Familial Porphyria Cutanea Tarda: Biochemical and Genetic Studies on Spanish Patients

Andrew Roberts, George H. Elder, Rafael Enrı́quez de Salamanca, Carmen Herrero, M Lecha, José M. Mascaró

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Key concepts: Porphyria cutanea tarda, Uroporphyrinogen III decarboxylase, Porphyria, Penetrance, Internal medicine, Endocrinology, Medicine, Heterozygote advantage

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A Mutation (G281E) of the Human Uroporphyrinogen Decarboxylase Gene Causes Both Hepatoerythropoietic Porphyria and Overt Familial Porphyria Cutanea Tarda: Biochemical and Genetic Studies on Spanish Patients — Research Paper | ScholarLens