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 |
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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