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