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Cenarro, A., Etxebarria, A., de Castro-Oros, I., Stef, M., Bea, A.M., Palacios, L., et al. (2016) The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-Regulation of LDL Receptor Expression in Hepatocytes. The Journal of Clinical Endocrinology and Metabolism, 101, 2113-2121.
https://doi.org/10.1210/jc.2015-3874

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