A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency |
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| Authors: | F Broly D Marez J-M Lo Guidice N Sabbagh M Legrand P Boone U A Meyer |
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| Institution: | (1) Laboratoire de Biochimie et Biologie Moléculaire de l'Hôpital Calmette,Centre Hospitalier Régional et Univesitaire de Lille, Avenue du Pr. J. Leclercq, F-59037 Lille, France;(2) Department of Pharmacology, Biozentrum of the University of Basel, Klingelbergstrasse 70, CH-4056 Basel, Switzerland |
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| 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 Caucasian having a deficiency of the isozyme, by means of single strand conformation polymorphism analysis of DNA fragments amplified by the polymerase chain reaction, followed by selective sequencing. |
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