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Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia

Atherosclerotic cardiovascular disease is the main cause of mortality worldwide and is strongly influenced by circulating low-density lipoprotein (LDL) cholesterol levels. Only a few genes causally related to plasma LDL cholesterol levels have been identified so far, and only 1 gene, ANGPTL3, has be...

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Detalles Bibliográficos
Autores principales: Dijk, Wieneke, Di Filippo, Mathilde, Kooijman, Sander, van Eenige, Robin, Rimbert, Antoine, Caillaud, Amandine, Thedrez, Aurélie, Arnaud, Lucie, Pronk, Amanda, Garçon, Damien, Sotin, Thibaud, Lindenbaum, Pierre, Ozcariz Garcia, Enrique, Pais de Barros, Jean-Paul, Duvillard, Laurence, Si-Tayeb, Karim, Amigo, Nuria, Le Questel, Jean-Yves, Rensen, Patrick C.N., Le May, Cédric, Moulin, Philippe, Cariou, Bertrand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9439636/
https://www.ncbi.nlm.nih.gov/pubmed/35899625
http://dx.doi.org/10.1161/CIRCULATIONAHA.121.057978