Article
Identification and characterization of CYP2D6*56B, an allele associated with the poor metabolizer phenotype.
Clinical pharmacology and therapeutics - 1 Jun 2007
Gaedigk A, Eklund J D, Pearce R E, Leeder J S, Alander S W, Phillips M S, Bradford L D, Kennedy M J
Abstract excerpt
A 5-year-old African-American girl presented with a CYP2D6*4xN/*10 genotype that was discordant with her poor metabolizer phenotype determined with the probe drug dextromethorphan. Both phenotype and genotype were confirmed in repeat assessments, suggesting that the CYP2D6*10 allele carried a novel debilitating sequence variation(s). The rationale for this study was to resolve the discordance and to describe the...
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