Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

Stitziel, N. O., Fouchier, S. W., Sjouke, B., Peloso, G. M., Moscoso, A. M., Auer, P. L., Goel, A., Gigante, B., Barnes, T. A., Melander, O., Orho-Melander, M., Duga, S., Sivapalaratnam, S., Nikpay, M., Martinelli, N., Girelli, D., Jackson, R. D., Kooperberg, C., Lange, L. A., Ardissino, D., McPherson, R., Farrall, M., Watkins, H., Reilly, M. P., Rader, D. J., de Faire, U., Schunkert, H., Erdmann, J., Samani, N. J., Charnas, L., Altshuler, D., Gabriel, S., Kastelein, J. J., Defesche, J. C., Nederveen, A. J., Kathiresan, S., Hovingh, G. K., National Heart, Lung, Blood Institute, G. O. Exome Sequencing Project

Arterioscler Thromb Vasc Biol. 2013 Dec;33(12):2909-14. doi: 10.1161/ATVBAHA.113.302426. Epub 2013 Sep 26.

http://www.ncbi.nlm.nih.gov/pubmed/24072694

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