Article
An inactive cytochrome P450 CYP2D6 allele containing a deletion and a base substitution.
Human genetics - 1 Mar 1995
Daly A K, Leathart J B, London S J, Idle J R
Abstract excerpt
The cytochrome P450 CYP2D6 is a polymorphic enzyme, for which 5%-10% of Caucasians (poor metabolizers) lack activity. The majority of mutations giving rise to the deficiency have now been identified but some individuals show anomalous phenotype-genotype relationships when screened for the common mutant alleles. We have sequenced all nine exons and intron-exon boundaries in a subject who was phenotypically a poor...
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