Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria

Clin Chem. 2013 Jul;59(7):1123-5. doi: 10.1373/clinchem.2012.199117. Epub 2013 Apr 22.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Exons
  • Female
  • Humans
  • Hydroxymethylbilane Synthase / genetics*
  • Porphyria, Acute Intermittent / genetics*

Substances

  • Hydroxymethylbilane Synthase