Article
Multiple novel nonsynonymous CYP2B6 gene polymorphisms in Caucasians: demonstration of phenotypic null alleles.
The Journal of pharmacology and experimental therapeutics - 1 Oct 2004
Lang Thomas, Klein Kathrin, Richter Tanja, Zibat Arne, Kerb Reinhold, Eichelbaum Michel, Schwab Matthias, Zanger Ulrich M
Abstract excerpt
The human microsomal cytochrome P450, CYP2B6, is involved in the biotransformation of several clinically important drugs. By complete sequence analysis of the human CYP2B6 gene coding regions in selected Caucasian DNA samples, we identified the five novel missense mutations 62A>T (Q21L in exon 1), 136A>G (M46V in exon 1), 12820G>A (G99E in exon 2), 13076G>A (R140Q in exon 3), and 21388T>A (I391N in exon 8). The...
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