Cenarro A, Etxebarria A, de Castro-Orós I, Stef M, Bea AM, Palacios L, Mateo-Gallego R, Benito-Vicente A, Ostolaza H, Tejedor T, Martín C, Civeira F. The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes. J Clin Endocrinol Metab. 2016 May;101(5):2113-21. Epub 2016 Mar 25 PubMed.

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Mutations

  1. APOE L167del