Gene symbol: HMBS. Disease: porphyria, acute intermittent

Hum Genet. 2006 Apr;119(3):364. doi: 10.1007/s00439-006-0139-8.
No abstract available

MeSH terms

  • Amino Acid Substitution*
  • Base Sequence
  • Humans
  • Hydroxymethylbilane Synthase / genetics*
  • Mutation, Missense*
  • Porphyria, Acute Intermittent / genetics*

Substances

  • Hydroxymethylbilane Synthase