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Article

Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

Human genetics - 1 Jan 1992

Boulechfar S, Da Silva V, Deybach J C, Nordmann Y, Grandchamp B, de Verneuil H

Abstract excerpt

Congenital erythropoietic porphyria (CEP) or Günther's disease is an inborn error of heme biosynthesis transmitted as an autosomal recessive trait and characterized by a profound deficiency of uroporphyrinogen III synthase (UROIIIS) activity. We have previously described two missense mutations in the UROIIIS gene, confirming that the primary defect responsible for CEP is a structural alteration of this gene. We...

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PMID: 1733834
DOI: 10.1007/BF00197267

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