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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 http://cellmolbiol.org/index.php/CMB/article/view/1065
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