Four novel mutations of the coproporphyrinogen III oxidase gene
C Aurizi1, G Lupia Palmieri, L Barbieri
1Porphyria and Hereditary Metabolic Diseases Center San Gallicano Institute, I.F.O., IRCCS Rome Italy. aurizi@commat.ifo.it
Cellular and Molecular Biology (Noisy-Le-Grand, France)
|March 10, 2009
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).
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