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Article

A novel intronic mutation, 2988G>A, with high predictivity for impaired function of cytochrome P450 2D6 in white subjects.

Clinical pharmacology and therapeutics - 1 Aug 2004

Raimundo Sebastian, Toscano Claudia, Klein Kathrin, Fischer Joachim, Griese Ernst-Ulrich, Eichelbaum Michel, Schwab Matthias, Zanger Ulrich M

Abstract excerpt

BACKGROUND: Individuals with the cytochrome P450 (CYP) 2D6 intermediate metabolizer (IM) phenotype have low residual enzyme activity and compose about 10% to 15% of white populations. Their identification is clinically relevant but remains unsatisfactory because of incomplete characterization of the major allele involved, termed CYP2D6*41 (-1584C, R296C, S486T). METHODS: To search for novel mutations,...

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Identifiers

PMID: 15289790
DOI: 10.1016/j.clpt.2004.04.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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