A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria

Haematologica. 2021 Jul 1;106(7):2030-2033. doi: 10.3324/haematol.2020.272450.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Aminolevulinate Synthetase / genetics
  • Endopeptidase Clp
  • Humans
  • Iron / metabolism
  • Mutation
  • Protoporphyria, Erythropoietic* / diagnosis
  • Protoporphyria, Erythropoietic* / genetics
  • Severity of Illness Index

Substances

  • Iron
  • 5-Aminolevulinate Synthetase
  • ALAS2 protein, human
  • Endopeptidase Clp
  • CLPX protein, human