Identification of two new mutations in congenital erythropoietic porphyria.

  title={Identification of two new mutations in congenital erythropoietic porphyria.},
  author={Morad Bensidhoum and C{\'e}cile Ged and I Hombrados and François Moreau-Gaudry and R S Hift and Peter Meissner and Edward D. Sturrock and Hubert de Verneuil},
  journal={European journal of human genetics : EJHG},
  volume={3 2},
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 genetic defect found in CEP. Two new mutations are described, a point mutation (V99A… CONTINUE READING

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