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

0301 basic medicine 0303 health sciences Base Sequence Molecular Sequence Data Cytochrome-c Oxidase Deficiency Polymerase Chain Reaction White People Mixed Function Oxygenases 3. Good health 03 medical and health sciences Cytochrome P-450 CYP2D6 Cytochrome P-450 Enzyme System Mutation Humans Polymorphism, Restriction Fragment Length Polymorphism, Single-Stranded Conformational
DOI: 10.1007/bf00197419 Publication Date: 2004-08-28T16:11:47Z
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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