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Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia

Proprotein convertase subtilisin kexin type 9 (PCSK9) is a critical modulator of cholesterol homeostasis. Whereas PCSK9 gain-of-function (GOF) mutations are associated with autosomal dominant hypercholesterolemia (ADH) and premature atherosclerosis, PCSK9 loss-of-function (LOF) mutations have a card...

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Detalles Bibliográficos
Autores principales: Si-Tayeb, Karim, Idriss, Salam, Champon, Benoite, Caillaud, Amandine, Pichelin, Matthieu, Arnaud, Lucie, Lemarchand, Patricia, Le May, Cédric, Zibara, Kazem, Cariou, Bertrand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728336/
https://www.ncbi.nlm.nih.gov/pubmed/26586530
http://dx.doi.org/10.1242/dmm.022277