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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Dettagli Bibliografici
Pubblicato in:Front Genet
Autori principali: Dušková, Lucie, Nohelová, Lucie, Loja, Tomáš, Fialová, Jana, Zapletalová, Petra, Réblová, Kamila, Tichý, Lukáš, Freiberger, Tomáš, Fajkusová, Lenka
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2020
Soggetti:
Genetics
Accesso online: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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