Article
A silent mutation (2939G>A, exon 6; CYP2D6*59) leading to impaired expression and function of CYP2D6.
Pharmacogenetics and genomics - 1 Oct 2006
Toscano Claudia, Raimundo Sebastian, Klein Kathrin, Eichelbaum Michel, Schwab Matthias, Zanger Ulrich M
Abstract excerpt
We analyzed CYP2D6 in two individuals characterized by impaired sparteine oxidation (intermediate metabolizer phenotype) and genotype 2D62/4 (1661G>C; 2850C>T; 4180G>C) usually associated with normal function. Full genomic sequencing and haplotype analysis confirmed the previously identified silent mutation 2939G>A in exon 6 (former allele variant 2D62J, now termed 2D659), as well as an additional novel 2291G>A...
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