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Document type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Article 
Author(s):
Stitziel, Nathan O; Won, Hong-Hee; Morrison, Alanna C; Peloso, Gina M; Do, Ron; Lange, Leslie A; Fontanillas, Pierre; Gupta, Namrata; Duga, Stefano; Goel, Anuj; Farrall, Martin; Saleheen, Danish; Ferrario, Paola; König, Inke; Asselta, Rosanna; Merlini, Piera A; Marziliano, Nicola; Notarangelo, Maria Francesca; Schick, Ursula; Auer, Paul; Assimes, Themistocles L; Reilly, Muredach; Wilensky, Robert; Rader, Daniel J; Hovingh, G Kees; Meitinger, Thomas; Kessler, Thorsten; Kastrati, Adnan; Laugwitz,...    »
 
Title:
Inactivating mutations in NPC1L1 and protection from coronary heart disease. 
Abstract:
Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.We sequenced the exons of NPC1L1 in 7364 patients with coronary heart disease and in 14,728 c...    »
 
Journal title abbreviation:
N Engl J Med 
Year:
2014 
Journal volume:
371 
Journal issue:
22 
Pages contribution:
2072-82 
Language:
eng 
Fulltext / DOI:
Print-ISSN:
0028-4793 
TUM Institution:
I. Medizinische Klinik und Poliklinik (Kardiologie); Institut für Humangenetik; Klinik für Herz- und Kreislauferkrankungen im Erwachsenenalter (Prof. Schunkert)