A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack

Clin Genet. 2008 Oct;74(4):396-8. doi: 10.1111/j.1399-0004.2008.01061.x. Epub 2008 Jul 21.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Exons
  • Female
  • Humans
  • Hydroxymethylbilane Synthase / genetics*
  • Hydroxymethylbilane Synthase / urine
  • Porphyria, Acute Intermittent / complications
  • Porphyria, Acute Intermittent / enzymology
  • Porphyria, Acute Intermittent / genetics*
  • Rhabdomyolysis / etiology
  • Rhabdomyolysis / genetics*
  • Sequence Deletion / genetics*

Substances

  • Hydroxymethylbilane Synthase