Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

OBJECTIVE: Autosomal recessive hypercholesterolemia (ARH) 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 ARH not explained by mutations in LDLRAP1 o...

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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2013
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4002172/
https://ncbi.nlm.nih.gov/pubmed/24072694
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/ATVBAHA.113.302426
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