Deletion of the ferrochelatase gene in a patient with protoporphyria

Hum Mol Genet. 1994 Sep;3(9):1695-7. doi: 10.1093/hmg/3.9.1695.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Cell Line
  • Chromosome Deletion
  • Chromosome Mapping
  • Chromosomes, Human, Pair 18
  • Cloning, Molecular
  • Female
  • Ferrochelatase / genetics*
  • Gene Deletion*
  • Humans
  • In Situ Hybridization
  • Lymphocytes / enzymology
  • Mosaicism
  • Porphyrias / genetics*
  • Porphyrias / metabolism*
  • Protoporphyria, Erythropoietic
  • Protoporphyrins / metabolism*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism

Substances

  • Protoporphyrins
  • RNA, Messenger
  • Ferrochelatase