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Article

Identification of two new mutations in congenital erythropoietic porphyria.

European journal of human genetics : EJHG - 1 Jan 1995

Bensidhoum M, Ged C, Hombrados I, Moreau-Gaudry F, Hift R S, Meissner P, Sturrock E D, 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. Six missense mutations in the UROIIIS gene, a deletion and an insertion have already been described in CEP. This work brings further evidence for the heterogeneity in the...

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PMID: 7552139
DOI: 10.1159/000472283

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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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