High-Throughput Microscopy Characterization of Rare LDLR Variants
Author:
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine
Reference28 articles.
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3. Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia;Bourbon;Curr Opin Lipidol,2017
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1. Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization;Frontiers in Cell and Developmental Biology;2024-07-24
2. Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries;European Journal of Internal Medicine;2024-05
3. Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype;Journal of Lipid Research;2024-02
4. Large-scale functional characterization of low-density lipoprotein receptor gene variants improves risk assessment in cardiovascular disease;2023-12-27
5. Sailing the Uncharted Waters of Familial Hypercholesterolemia LDL Receptor Genetic-Related Variants;JACC: Basic to Translational Science;2023-08
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