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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2020
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| Materias: | |
| 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 |