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Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria.

AuthorsAkimasa Saito, Naoko Okiyama, Sae Inoue, Noriko Kubota, Yoshiyuki Nakamura, Yosuke Ishitsuka, Rei Watanabe, Hajime Nakano, Yasuhiro Fujisawa
JournalThe Journal of dermatology (J Dermatol) Vol. 47 Issue 4 Pg. e114-e116 (Apr 2020) ISSN: 1346-8138 [Electronic] England
PMID32056258 (Publication Type: Case Reports, Letter)
Chemical References
  • FECH protein, human
  • Ferrochelatase
Topics
  • DNA Mutational Analysis
  • Exons (genetics)
  • Female
  • Ferrochelatase (genetics)
  • Frameshift Mutation
  • Heterozygote
  • Humans
  • Japan
  • Loss of Function Mutation
  • Male
  • Middle Aged
  • Pedigree
  • Protoporphyria, Erythropoietic (diagnosis, genetics)

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