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Hum Genet. 1996 May;97(5):668-70.

An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine.

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Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Calmette, Centre Hospitalier Régional et Universitaire de Lille, France.


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 prevalence in a randomly selected population of healthy Caucasians, its identification should further increase the phenotype prediction rate by genotyping.

[Indexed for MEDLINE]

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