A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency

• DOI: 10.1007/bf00197419
• Publication Date: 2004-08-28T16:11:47Z
• Authors: F. Broly; D. Marez; J.-M. Lo Guidice; N. Sabbagh; M. Legrand; P. Boone; U. A. Meyer
• Keywords: Nonsense mutation; Nonsense; Stop codon

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.