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BioMed Central, Genome Medicine, 1(7), p. 7, 2015

DOI: 10.1186/s13073-015-0130-x

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Using inactivating mutations to provide insight into drug action

Journal article published in 2015 by Laura J. Corbin ORCID, Nicholas J. Timpson ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.