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Novel variant of CYP2D6*6 is undetected by a commonly used genotyping procedure

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  1. Altered surface expression of P2Y11 receptor with narcolepsy-associated mutations

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  2. Effect of TRPA1 activator allyl isothiocyanate (AITC) on rat dural and pial arteries

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  1. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

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  2. Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

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  3. Clinical association to FKBP5 rs1360780 in patients with depression

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  4. A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population

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  5. Genetic risk scores for major psychiatric disorders and the risk of postpartum psychiatric disorders

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We report the identification of a novel and defective variant of the gene encoding cytochrome P450 2D6 (CYP2D6). This novel variant is a subtype of CYP2D6*6 that was undetected by a commercially available 5' exonuclease-based assay. Because the novel variant was found in only one of 609 individuals, it represents a rare subtype of CYP2D6*6 that may be restricted to a single family or a subpopulation. A procedure for the identification of the novel CYP2D6*6 variant using restriction enzyme treatment of amplified fragments was developed.
Original languageEnglish
JournalPharmacological Reports
Volume63
Issue number5
Pages (from-to)1264-6
Number of pages3
ISSN1734-1140
Publication statusPublished - 2011

ID: 33217638