Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC

Clin Chem. 2001 Feb;47(2):343-6.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromatography, High Pressure Liquid
  • Female
  • Humans
  • Hydroxymethylbilane Synthase / genetics*
  • Mutation
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Porphyria, Acute Intermittent / genetics*

Substances

  • Hydroxymethylbilane Synthase