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Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia: A case report

RATIONALE: Proprotein convertase subtilisin/kexin 9 or PCSK9 is a protein whose main function is to regulate the number of low-density lipoprotein receptors (LDLR) present on the cell surface. Loss-of-function mutations in PCSK9 have been related to low LDL-cholesterol levels and a decrease in the r...

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Detalles Bibliográficos
Autores principales:	Bayona, Ane, Arrieta, Francisco, Rodríguez-Jiménez, Carmen, Cerrato, Francisco, Rodríguez-Nóvoa, Sonia, Fernández-Lucas, Milagros, Gómez-Coronado, Diego, Mata, Pedro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2020
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7447476/ https://www.ncbi.nlm.nih.gov/pubmed/32846800 http://dx.doi.org/10.1097/MD.0000000000021754

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