Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia
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| Description | scientific article published on 26 September 2013 |
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author: National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project Ulf de Faire Rebecca D. Jackson Nilesh Samani Marju Orho-Melander Nicola Martinelli G Kees Hovingh Martin Farrall Diego Ardissino Aart Nederveen Daniel Rader Anuj Goel Jeanette Erdmann Olle Melander Muredach P. Reilly Stacey Gabriel Nathan O Stitziel John J. P. Kastelein Ruth McPherson David Altshuler Hugh Christian Watkins Majid Nikpay Paul L Auer Suthesh Sivapalaratnam Leslie A. Lange Timothy J Barnes Bruna Gigante Gina M Peloso Heribert Schunkert Stefano Duga Sekar Kathiresan Charles Kooperberg Sigrid W Fouchier |
| Publication date | September 26, 2013 |
| Language | English |
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