Article
Gene copy number variation analysis reveals dosage-insensitive expression of CYP2E1.
The pharmacogenomics journal - 1 Nov 2016
Tremmel R, Klein K, Winter S, Schaeffeler E, Zanger U M
Abstract excerpt
Gene copy number variants (CNVs) of CYP2E1 have been described but not functionally characterized. Here we investigated effects of CNVs on hepatic and lymphoblastoid CYP2E1 expression. Using available single-nuleotide polymorphism microarray data and quantitative PCR, CYP2E1 gene duplication and deletion carriers were identified. CYP2E1 mRNA, protein and enzyme activity (chlorzoxazone-6-hydroxylation) phenotypes...
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