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Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease
Author(s) -
Amit V. Khera,
HongHee Won,
Gina M. Peloso,
Colm O’Dushlaine,
Dajiang J. Liu,
Nathan O. Stitziel,
Pradeep Natarajan,
Akihiro Nomura,
Connor A. Emdin,
Namrata Gupta,
Ingrid B. Borecki,
Rosanna Asselta,
Stefano Duga,
Piera Angelica Merlini,
Adolfo Correa,
Thorsten Kessler,
James G. Wilson,
Matthew J. Bown,
Alistair S. Hall,
Peter S. Braund,
David J. Carey,
Michael F. Murray,
H. Lester Kirchner,
Joseph B. Leader,
Daniel R. Lavage,
J. Neil Manus,
Dustin N. Hartzel,
Nilesh J. Samani,
Heribert Schunkert,
Jaume Marrugat,
Roberto Elosúa,
Ruth McPherson,
Martin Farrall,
Hugh Watkins,
Eric S. Lander,
Daniel J. Rader,
John Danesh,
Diego Ardissino,
Stacey Gabriel,
Cristen J. Willer,
Gonçalo R. Abecasis,
Danish Saleheen,
Frederick E. Dewey,
Sekar Kathiresan
Publication year - 2017
Publication title -
jama
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.688
H-Index - 680
eISSN - 1538-3598
pISSN - 0098-7484
DOI - 10.1001/jama.2017.0972
Subject(s) - medicine , lipoprotein lipase , coronary artery disease , missense mutation , case control study , genetics , myocardial infarction , bioinformatics , endocrinology , mutation , gene , biology , adipose tissue
The activity of lipoprotein lipase (LPL) is the rate-determining step in clearing triglyceride-rich lipoproteins from the circulation. Mutations that damage the LPL gene (LPL) lead to lifelong deficiency in enzymatic activity and can provide insight into the relationship of LPL to human disease.

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