Article
Copy-number variations (CNVs) of the human sex steroid metabolizing genes UGT2B17 and UGT2B28 and their associations with a UGT2B15 functional polymorphism.
Human mutation - 1 Sept 2009
Ménard Vincent, Eap Olivier, Harvey Mario, Guillemette Chantal, Lévesque Eric
Abstract excerpt
UGT2B17 and UGT2B28 are among the most commonly deleted genes in humans and encode members of the uridine diphosphate (UDP)-glucuronosyltransferase 2B (UGT2B) subfamily. They are involved, along with UGT2B15, in the catabolism of sex-steroid hormones. Despite the recent biomedical interest in UGT2B17 and UGT2B28 copy-number variations (CNVs) within human populations, the impact of their gene dosage has been...
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