Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3‐48C polymorphism in the ferrochelatase gene

@article{Mizawa2016IncompleteEP,
  title={Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3‐48C polymorphism in the ferrochelatase gene},
  author={M. Mizawa and T. Makino and H. Nakano and D. Sawamura and T. Shimizu},
  journal={British Journal of Dermatology},
  year={2016},
  volume={174}
}
  • M. Mizawa, T. Makino, +2 authors T. Shimizu
  • Published 2016
  • Medicine
  • British Journal of Dermatology
  • Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria caused by both the partial deficiency of ferrochelatase (FECH) and the existence of cytosine at IVS3‐48 in trans to a mutated FECH allele. However, physicians occasionally encounter patients with EPP with a mild phenotype associated with a slight increase in the erythrocyte‐free protoporphyrin concentration and no FECH gene mutations. In this study, genetic analyses were performed on three patients with a mild phenotype of… CONTINUE READING
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