Novel variant of CYP2D6*6 is undetected by a commonly used genotyping procedure
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Novel variant of CYP2D6*6 is undetected by a commonly used genotyping procedure. / Rasmussen, Henrik Berg; Werge, Thomas.
I: Pharmacological Reports, Bind 63, Nr. 5, 2011, s. 1264-6.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Novel variant of CYP2D6*6 is undetected by a commonly used genotyping procedure
AU - Rasmussen, Henrik Berg
AU - Werge, Thomas
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
M3 - Journal article
VL - 63
SP - 1264
EP - 1266
JO - Pharmacological Reports
JF - Pharmacological Reports
SN - 1734-1140
IS - 5
ER -
ID: 40205201