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

Stefano Angelo Santini, M Savino, M Garrubba, L Zelante, F Aucella, Cc Guida

Research output: Contribution to journalArticle

Abstract

Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda
Original languageEnglish
Pages (from-to)474-474
Number of pages1
JournalHuman Genetics
Volume127
Publication statusPublished - 2010

Keywords

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

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