Article
Reappraisal of the genetic diversity and pharmacogenetic assessment of CES1.
Pharmacogenomics - 1 Aug 2017
Ferrero-Miliani Laura, Bjerre Ditte, Stage Claus, Madsen Majbritt Busk, Jűrgens Gesche, Dalhoff Kim Peder, Rasmussen Henrik Berg
Abstract excerpt
The CES1 gene encodes a hydrolase that metabolizes important drugs. Variants generated by exchange of segments with CES1P1 complicate genotyping of CES1. Using a highly specific procedure we examined DNA samples from 200 Caucasians and identified 46 single nucleotide variants (SNVs) in CES1 and 21 SNVs in CES1A2, a hybrid composed of CES1 and CES1P1. Several of these SNVs were novel. The frequencies of SNVs with...
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