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 (21...
Topics
- Alleles
- Amino Acid Sequence
- Arginine
- Base Sequence
- Cytochrome P-450 CYP2D6
- Cytochrome P-450 Enzyme System
- DNA Primers
- Genetic Variation
- Glycine
- Humans
- Mixed Function Oxygenases
- Molecular Sequence Data
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Sparteine
- TATA Box