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A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants

Background: Gain of function (GOF) mutations of PCSK9 cause autosomal dominant familial hypercholesterolemia as they reduce the abundance of LDL receptor (LDLR) more efficiently than wild-type PCSK9. In contrast, PCSK9 loss of function (LOF) variants are associated with a hypocholesterolemic phenoty...

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Detalles Bibliográficos
Autores principales:	Uribe, Kepa B., Chemello, Kevin, Larrea-Sebal, Asier, Benito-Vicente, Asier, Galicia-Garcia, Unai, Bourane, Steeve, Jaafar, Ali K., Lambert, Gilles, Martín, César
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706470/ https://www.ncbi.nlm.nih.gov/pubmed/34948399 http://dx.doi.org/10.3390/ijms222413602

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