Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
Anuj Goel, Majid Nikpay, Stefano Duga, Paul L Auer, Alessa M Moscoso, Nathan O Stitziel, Barbara Sjouke, Gina M Peloso, Sigrid W Fouchier, Suthesh Sivapalaratnam, Lawrence Charnas, Timothy A Barnes, Leslie A Lange, Aart J Nederveen, Nilesh J Samani, Sekar Kathiresan, Olle Melander, Hugh Watkins, Muredach P Reilly, Martin Farrall, Stacey Gabriel, David Altshuler, Ruth McPherson, Daniel J Rader, John J P Kastelein, Bruna Gigante, Domenico Girelli, Nicola Martinelli, Charles Kooperberg, G Kees Hovingh, Marju Orho-Melander, Heribert Schunkert, Joep C Defesche, Ulf de Faire, Jeanette Erdmann, Diego Ardissino, Rebecca D Jackson
Arteriosclerosis, thrombosis, and vascular biology 2014;33(12):2909-14