Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia
外显子组测序和定向临床表型分析可诊断胆固醇酯贮积症，该病表现为常染色体隐性高胆固醇血症。
期刊:Arteriosclerosis Thrombosis and Vascular Biology
影响因子:7.4
doi:10.1161/ATVBAHA.113.302426
Stitziel, Nathan O; Fouchier, Sigrid W; Sjouke, Barbara; Peloso, Gina M; Moscoso, Alessa M; Auer, Paul L; Goel, Anuj; Gigante, Bruna; Barnes, Timothy A; Melander, Olle; Orho-Melander, Marju; Duga, Stefano; Sivapalaratnam, Suthesh; Nikpay, Majid; Martinelli, Nicola; Girelli, Domenico; Jackson, Rebecca D; Kooperberg, Charles; Lange, Leslie A; Ardissino, Diego; McPherson, Ruth; Farrall, Martin; Watkins, Hugh; Reilly, Muredach P; Rader, Daniel J; de Faire, Ulf; Schunkert, Heribert; Erdmann, Jeanette; Samani, Nilesh J; Charnas, Lawrence; Altshuler, David; Gabriel, Stacey; Kastelein, John J P; Defesche, Joep C; Nederveen, Aart J; Kathiresan, Sekar; Hovingh, G Kees
