Four novel mutations of the coproporphyrinogen III oxidase gene

C. Aurizi, G. Lupia Palmieri, L. Barbieri, A. Macrì, F. Sorge, G. Usai, G. Biolcati

Research output: Contribution to journalArticlepeer-review

Abstract

Here we report the characterization of four novel mutations and a previously described one of the coproporphyrinogen III oxidase (CPO) gene in five Italian patients affected by Hereditary Coproporphyria (HCP). Three of the novel genetic variants are missense mutations (p.Gly242Cys; p.Leu398Pro; p.Ser245Phe) and one is a frameshift mutation (p.Gly188TrpfsX45).

Original languageEnglish
Pages (from-to)15-18
Number of pages4
JournalCellular and Molecular Biology
Volume55
Issue number1
DOIs
Publication statusPublished - 2009

Keywords

  • Coproporphyrinogen III oxidase
  • Coproporphyrins
  • Hereditary coproporphyria

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology
  • Biochemistry

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