A novel A(-4)-to-G acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria

J Invest Dermatol. 2001 Jul;117(1):159-61. doi: 10.1046/j.0022-202x.2001.01365.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ferrochelatase / genetics*
  • Humans
  • Male
  • Mutation*
  • Porphyria, Hepatoerythropoietic / enzymology
  • Porphyria, Hepatoerythropoietic / genetics*
  • RNA Splice Sites / genetics*
  • RNA, Messenger / genetics

Substances

  • RNA Splice Sites
  • RNA, Messenger
  • Ferrochelatase