Using inactivating mutations to provide insight into drug action

Research output: Contribution to journalComment/debate (Academic Journal)peer-review

1 Citation (Scopus)
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Abstract

The role of ezetimibe in lowering plasma cholesterol has been established; however, controversy remains about its clinical benefit. A recent study utilizes naturally occurring genetic variation within the NPC1-like 1 gene (NPC1L1) to demonstrate the potential for pharmacologic inhibition of the protein to reduce the risk of coronary heart disease. This research demonstrates the application of the concept of genocopy to a population-based validation of NPC1L1 as a therapeutic target.
Original languageEnglish
Article number7
Number of pages3
JournalGenome Medicine
Volume7
Issue number1
DOIs
Publication statusPublished - 28 Jan 2015

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