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Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity
Homozygous familial hypercholesterolemia is a rare disease usually caused by LDLR (low-density lipoprotein receptor) mutations. Homozygous familial hypercholesterolemia is characterized by markedly elevated LDL-C (low-density lipoprotein cholesterol) levels and an extremely high risk of premature at...
Autores principales: | Banerjee, Poulabi, Chan, Kuo-Chen, Tarabocchia, Michel, Benito-Vicente, Asier, Alves, Ana C., Uribe, Kepa B., Bourbon, Mafalda, Skiba, Paul J., Pordy, Robert, Gipe, Daniel A., Gaudet, Daniel, Martin, Cesar |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6818983/ https://www.ncbi.nlm.nih.gov/pubmed/31578082 http://dx.doi.org/10.1161/ATVBAHA.119.313051 |
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