Molecular characterization of erythropoietic protoporphyria in South Africa

  title={Molecular characterization of erythropoietic protoporphyria in South Africa},
  author={M. Parker and A. Corrigall and R. Hift and P. Meissner},
  journal={British Journal of Dermatology},
  • M. Parker, A. Corrigall, +1 author P. Meissner
  • Published 2008
  • Biology, Medicine
  • British Journal of Dermatology
  • Background  Erythropoietic protoporphyria (EPP) results from a partial deficiency of ferrochelatase (FECH). Clinical expression normally requires coinheritance of a common hypomorphic FECH allele (IVS3‐48C) in trans to a deleterious (primary) FECH mutation. 
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