Issue
The undersigned hereby assign all rights, included but not limited to copyright, for this manuscript to CMB Association upon its submission for consideration to publication on Cellular and Molecular Biology. The rights assigned include, but are not limited to, the sole and exclusive rights to license, sell, subsequently assign, derive, distribute, display and reproduce this manuscript, in whole or in part, in any format, electronic or otherwise, including those in existence at the time this agreement was signed. The authors hereby warrant that they have not granted or assigned, and shall not grant or assign, the aforementioned rights to any other person, firm, organization, or other entity. All rights are automatically restored to authors if this manuscript is not accepted for publication.
Four novel mutations of the coproporphyrinogen III oxidase gene
Corresponding Author(s) : C Aurizi
aurizi@ifo.it
Cellular and Molecular Biology,
Vol. 55 No. 1: Porphyrias and associated pathologies. Biochemistry and molecular biology Part 1
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).
Keywords
Hereditary Coproporphyria
coproporphyrins
coproporphyrinogen III oxidase.
Aurizi, C., Lupia Palmieri, G., Barbieri, L., Macrí¬, A., Sorge, F., Usai, G., & Biolcati, G. (2015). Four novel mutations of the coproporphyrinogen III oxidase gene. Cellular and Molecular Biology, 55(1), 15–18. Retrieved from https://mail.cellmolbiol.org/index.php/CMB/article/view/1065
Download Citation
Endnote/Zotero/Mendeley (RIS)BibTeX