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  • Title: Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
    Author: Frank J, Jugert FK, Kalka K, Goerz G, Merk HF, Christiano AM.
    Journal: J Invest Dermatol; 1998 Apr; 110(4):449-51. PubMed ID: 9540990.
    Abstract:
    The porphyrias are disorders of porphyrin metabolism that result from inherited or acquired aberrations in the control of the heme biosynthetic pathway. Variegate porphyria is characterized by a partial reduction in the activity of protoporphyrinogen oxidase. In this study, we identified the first nonsense mutation in a family with variegate porphyria. The mutation consisted of a previously unreported G-to-T transversion in exon 5 of the protoporphyrinogen oxidase gene, resulting in the substitution of glutamic acid by a nonsense codon, designated E133X. Our investigation establishes that a nonsense mutation in the protoporphyrinogen oxidase gene is the underlying mutation in this family with variegate porphyria.
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