Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda

Hum Genet. 2010 Apr;127(4):474.
No abstract available

MeSH terms

  • Exons
  • Humans
  • Introns
  • Mutation, Missense
  • Porphyria Cutanea Tarda / enzymology
  • Porphyria Cutanea Tarda / genetics*
  • RNA Splice Sites
  • RNA Splicing / genetics
  • Uroporphyrinogen Decarboxylase / genetics*

Substances

  • RNA Splice Sites
  • Uroporphyrinogen Decarboxylase