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
AUTHORS (7)
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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