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

✍ Scribed by F. Broly; D. Marez; J.-M. Guidice; N. Sabbagh; M. Legrand; P. Boone; U. A. Meyer

Publisher: Springer
Year: 1995
Tongue: English
Weight: 375 KB
Volume: 96
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00197419

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✦ Synopsis

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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