|Publication Type||Journal Article|
|Year of Publication||2013|
|Authors||Stitziel, NO, Fouchier, SW, Sjouke, B, Peloso, GM, Moscoso, AM, Auer, PL, Goel, A, Gigante, B, Barnes, TA, Melander, O, Orho-Melander, M, Duga, S, Sivapalaratnam, S, Nikpay, M, Martinelli, N, Girelli, D, Jackson, RD, Kooperberg, C, Lange, LA, Ardissino, D, McPherson, R, Farrall, M, Watkins, H, Reilly, MP, Rader, DJ, de Faire, U, Schunkert, H, Erdmann, J, Samani, NJ, Charnas, L, Altshuler, D, Gabriel, S, Kastelein, JJ, Defesche, JC, Nederveen, AJ, Kathiresan, S, Hovingh, GK, for theand National Heart, Lung, BIGOESP|
|Journal||Arteriosclerosis, thrombosis, and vascular biology|
Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not explained by mutations in LDLRAP1 or other genes known to cause monogenic hypercholesterolemia. The aim of this study was to identify the molecular pathogenesis of autosomal recessive hypercholesterolemia in this family.