Article
Debrisoquine oxidation polymorphism: phenotypic consequences of a 3-base-pair deletion in exon 5 of the CYP2D6 gene.
Pharmacogenetics - 1 Jun 1993
Broly F, Meyer U A
Abstract excerpt
A mutant allele of the CYP2D6 gene (CYP2D6* C) characterized by a 3-base-pair deletion in exon 5 (mutation D6-C) and carried by a Xba I 29 kb restriction fragment (haplotype 29-C) was previously presumed to be associated with the debrisoquine poor metabolizer phenotype on the basis of in vitro en...
Topics
- Adult
- Base Sequence
- Cytochrome P-450 CYP2D6
- Cytochrome P-450 Enzyme System
- DNA
- Debrisoquin
- Exons
- Female
- Genetic Carrier Screening
- Humans
- Male
- Middle Aged
- Mixed Function Oxygenases
- Molecular Sequence Data
- Mutation
- Oxidation-Reduction
- Pedigree
- Phenotype
