Article
A novel CYP2D6 allele with an abolished splice recognition site associated with the poor metabolizer phenotype.
Pharmacogenetics - 1 Oct 1995
Marez D, Sabbagh N, Legrand M, Lo-Guidice J M, Boone P, Broly F
Abstract excerpt
A novel loss-of function allele of the CYP2D6 gene was characterized in a PM individual using exon-by-exon PCR-SSCP analysis. This allele, we termed CYP2D6(F), harbours four mutations including a new mutation (D6-F) which abolishes the splice acceptor site of the 1st intron and results in a prema...
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