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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Detalles Bibliográficos
Autores principales: Dušková, Lucie, Nohelová, Lucie, Loja, Tomáš, Fialová, Jana, Zapletalová, Petra, Réblová, Kamila, Tichý, Lukáš, Freiberger, Tomáš, Fajkusová, Lenka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339958/
https://www.ncbi.nlm.nih.gov/pubmed/32695144
http://dx.doi.org/10.3389/fgene.2020.00691

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339958/
https://www.ncbi.nlm.nih.gov/pubmed/32695144
http://dx.doi.org/10.3389/fgene.2020.00691

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