Abstract:
:The identification of a novel CYP2D6 allele from a healthy Caucasian poor metabolizer was achieved by using a previously described polymerase chain reaction/single-strand conformation polymorphism strategy. Among the four point mutations that this allele carries, a missense mutation in exon 1 (212 G-->A or D6-H) seems to be responsible for the loss of CYP2D6 function. Although the mutation D6-H has a low prevalence in a randomly selected population of healthy Caucasians, its identification should further increase the phenotype prediction rate by genotyping.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Marez D,Legrand M,Sabbagh N,Lo-Guidice JM,Boone P,Broly Fdoi
10.1007/BF02281880subject
Has Abstractpub_date
1996-05-01 00:00:00pages
668-70issue
5eissn
0340-6717issn
1432-1203journal_volume
97pub_type
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