CDA gene polymorphisms and enzyme activity: genotype-phenotype relationship in an Italian-Caucasian population.

doi:10.2217/pgs.13.56

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CDA gene polymorphisms and enzyme activity: genotype-phenotype relationship in an Italian-Caucasian population.

Pharmacogenomics - 1 May 2013

Carpi Francesco M, Vincenzetti Silvia, Ubaldi Jessica, Pucciarelli Stefania, Polzonetti Valeria, Micozzi Daniela, Mignini Fiorenzo, Napolioni Valerio

Abstract excerpt

AIM: To assess the distribution of CDA activity from whole blood of 142 healthy subjects, determining its main predictors among genetic (six CDA SNPs) and physiological factors (age and gender). Moreover, we performed a kinetic study of the two CDA protein variants (Q27 and K27) determined by the rs2072671 SNP. MATERIALS & METHODS: CDA activity was assessed by HPLC. Selected CDA SNPs were genotyped by PCR-based...

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PMID: 23651026
DOI: 10.2217/pgs.13.56

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