Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact

Background: Pathogenic variants in the low density lipoprotein receptor gene are associated with familial hypercholesterolemia. Some of these variants can result in incorrect folding of the LDLR protein, which is then accumulated inside the cell and cannot fulfill its function to internalize LDL par...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Dušková, Lucie, Nohelová, Lucie, Loja, Tomáš, Fialová, Jana, Zapletalová, Petra, Réblová, Kamila, Tichý, Lukáš, Freiberger, Tomáš, Fajkusová, Lenka
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7339958/
https://ncbi.nlm.nih.gov/pubmed/32695144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00691
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