Molecular characterization of erythropoietic protoporphyria in South Africa

@article{Parker2008MolecularCO,
  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},
  year={2008},
  volume={159}
}
  • 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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    References

    SHOWING 1-10 OF 241 REFERENCES
    Erythropoietic protoporphyria and hepatic complications.
    • 39
    Erythropoietic protoporphyria--diagnosis and treatment.
    • 21
    Exonic deletions as a cause of erythropoietic protoporphyria
    • 6
    Erythropoietic protoporphyria exacerbated by oral iron therapy
    • 45
    Genetic aspects of erythropoietic protoporphyria
    • 117
    Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria
    • 8