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 language | English |
|---|---|
| Pages (from-to) | 15-18 |
| Number of pages | 4 |
| Journal | Cellular and Molecular Biology |
| Volume | 55 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2009 |
Keywords
- Coproporphyrinogen III oxidase
- Coproporphyrins
- Hereditary coproporphyria
ASJC Scopus subject areas
- Molecular Biology
- Cell Biology
- Biochemistry
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Aurizi, C., Lupia Palmieri, G., Barbieri, L., Macrì, A., Sorge, F., Usai, G., & Biolcati, G. (2009). Four novel mutations of the coproporphyrinogen III oxidase gene. Cellular and Molecular Biology, 55(1), 15-18. https://doi.org/10.1170/T832