Article
An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine.
Human genetics - 1 May 1996
Marez D, Legrand M, Sabbagh N, Lo-Guidice J M, Boone P, Broly F
Abstract excerpt
The identification of a novel CYP2D6 allele from a healthy Caucasian poor metabolizer was achieved by using a previously described polymerase chain reaction/single-strand conformation polymorphism strategy. Among the four point mutations that this allele carries, a missense mutation in exon 1 (212 G-->A or D6-H) seems to be responsible for the loss of CYP2D6 function. Although the mutation D6-H has a low...
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