Article
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology - 1 Dec 2013
Stitziel Nathan O, Fouchier Sigrid W, Sjouke Barbara, Peloso Gina M, Moscoso Alessa M, Auer Paul L, Goel Anuj, Gigante Bruna, Barnes Timothy A, Melander Olle, Orho-Melander Marju, Duga Stefano, Sivapalaratnam Suthesh, Nikpay Majid, Martinelli Nicola, Girelli Domenico, Jackson Rebecca D, Kooperberg Charles, Lange Leslie A, Ardissino Diego, McPherson Ruth, Farrall Martin, Watkins Hugh, Reilly Muredach P, Rader Daniel J, de Faire Ulf, Schunkert Heribert, Erdmann Jeanette, Samani Nilesh J, Charnas Lawrence, Altshuler David, Gabriel Stacey, Kastelein John J P, Defesche Joep C, Nederveen Aart J, Kathiresan Sekar, Hovingh G Kees
Abstract excerpt
OBJECTIVE: 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...
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