Corpus ID: 40833793

Identification of a new genetic defect responsible for the polymorphism of (S)-mephenytoin metabolism in Japanese.

@article{Morais1994IdentificationOA,
  title={Identification of a new genetic defect responsible for the polymorphism of (S)-mephenytoin metabolism in Japanese.},
  author={S. D. de Morais and G. Wilkinson and J. Blaisdell and U. Meyer and K. Nakamura and J. Goldstein},
  journal={Molecular pharmacology},
  year={1994},
  volume={46 4},
  pages={
          594-8
        }
}
A genetic polymorphism in the metabolism of the anticonvulsant drug (S)-mephenytoin has been well documented in humans. There are marked interracial differences in the frequency of the poor metabolizer phenotype, which comprises 2-5% of Caucasian but 18-23% of Asian populations. We have recently reported that the principal genetic defect responsible for the poor metabolizer phenotype is a single-base pair mutation in exon 5 of CYP2C19 (CYP2C19m), which accounts for approximately 75-83% of the… Expand
A new genetic defect in human CYP2C19: mutation of the initiation codon is responsible for poor metabolism of S-mephenytoin.
Identification of new human CYP2C19 alleles (CYP2C19*6 and CYP2C19*2B) in a Caucasian poor metabolizer of mephenytoin.
Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutation
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