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Keywords: Autosomal dominant hypercholesterolemiaClose
In collection:Stem Cells
Karim Si-Tayeb, Salam Idriss, Benoite Champon, Amandine Caillaud, Matthieu Pichelin, Lucie Arnaud, Patricia Lemarchand, Cédric Le May, Kazem Zibara, Bertrand Cariou
Journal: Disease Models & Mechanisms
Dis Model Mech (2016) 9 (1): 81–90.
Published: 01 January 2016
...-of-function (GOF) mutations are associated with autosomal dominant hypercholesterolemia (ADH) and premature atherosclerosis, PCSK9 loss-of-function (LOF) mutations have a cardio-protective effect and in some cases can lead to familial hypobetalipoproteinemia (FHBL). However, limitations of the currently...
Includes: Supplementary data