A silent mutation (2939G>A, exon 6; CYP2D659) leading to impaired expression and function of CYP2D6

We analyzed CYP2D6 in two individuals characterized by impaired sparteine oxidation (intermediate metabolizer phenotype) and genotype 2D62/4 (1661G>C; 2850C>T; 4180G>C) usually associated with normal function. Full genomic sequencing and haplotype analysis confirmed the previously identifie...

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Veröffentlicht in:	Pharmacogenetics and genomics 2006-10, Vol.16 (10), p.767-770
Hauptverfasser:	Toscano, Claudia, Raimundo, Sebastian, Klein, Kathrin, Eichelbaum, Michel, Schwab, Matthias, Zanger, Ulrich M
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Biological and medical sciences Blotting, Western Cell Line, Tumor Cytochrome P-450 CYP2D6 - genetics Cytochrome P-450 CYP2D6 - metabolism DNA Primers Exons General pharmacology Haplotypes Humans Medical sciences Mutation Pharmacokinetics. Pharmacogenetics. Drug-receptor interactions Pharmacology. Drug treatments Phenotype RNA, Messenger - genetics
Online-Zugang:	Volltext
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