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Updated: Jul 16, 2026

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Published on: March 28, 2017
Identification and characterization of CYP2D6*56B, an allele associated with the poor metabolizer phenotype
A Gaedigk1, J D Eklund, R E Pearce
1Section of Developmental Pharmacology and Experimental Therapeutics, Children's Mercy Hospital and Clinics, Kansas City, Missouri, USA. agaedigk@cmh.edu
Abstract:
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 novel non-functional allelic variant of CYP2D6 and its frequency in populations of different ethnic backgrounds.
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