A NONSENSE MUTATION IN THE CYTOCHROME-P450 CYP2D6 GENE IDENTIFIED IN A CAUCASIAN WITH AN ENZYME DEFICIENCY

Authors
BROLY F MAREZ D LOGUIDICE JM SABBAGH N LEGRAND M BOONE P MEYER UA
Citation
F. Broly et al., A NONSENSE MUTATION IN THE CYTOCHROME-P450 CYP2D6 GENE IDENTIFIED IN A CAUCASIAN WITH AN ENZYME DEFICIENCY, Human genetics, 96(5), 1995, pp. 601-603
Citations number
21
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
96
Issue
5
Year of publication
1995
Pages
601 - 603
Database
ISI
SICI code
0340-6717(1995)96:5<601:ANMITC>2.0.ZU;2-X
Abstract
A novel mutation that generates a stop codon in the third exon of the gene encoding the cytochrome P-450 CYP2D6 was identified in a Caucasia n having a deficiency of the isozyme, by means of single strand confor mation polymorphism analysis of DNA fragments amplified by the polymer ase chain reaction, followed by selective sequencing.