A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria

@article{Imoto1996ANM,
  title={A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria},
  author={Susumu Imoto and Yukio Tanizawa and Y Sato and Koichiro Kaku and Y Oka},
  journal={British Journal of Haematology},
  year={1996},
  volume={94}
}
Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by mutations of the ferrochelatase gene. We investigated a Japanese patient with a dominant form of erythropoietic protoporphyria for a ferrochelatase mutation. Sequence analysis of the proband's ferrochelatase cDNA revealed a T to C point mutation at nucleotide 557. This mutation resulted in the replacement of Ile by Thr at amino acid position 186, a novel mutation in erythropoietic protoporphyria. An increase in… Expand
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  • Medicine
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Hepatic complications of erythropoietic protoporphyria *
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In Epstein-Barr virus-transformed lymphoblastoid cells from a proband with EPP, enzyme activity, an immunochemically quantifiable protein, and mRNA content of ferrochelatase were about one-half the normal level, suggesting that decreased ferroChelatase mRNA is due to an unstable transcript. Expand
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