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Arteriosclerosis, thrombosis, and vascular biology DOI:10.1161/ATVBAHA.113.302426

Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia.

Publication TypeJournal Article
Year of Publication2013
AuthorsStitziel, 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
JournalArteriosclerosis, thrombosis, and vascular biology
Date Published2013/09/26

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.