Associated Papers
Family hypercholesterolemia due to LDLR gene in Vietnamese children: characteristics of phenotype and genotype.
Do MTT et al.
Molecular Genetics and Metabolism Reports, 2025
Exploring LDLR-APOB Interactions in Familial Hypercholesterolemia in the Vietnamese Population: A Protein-Protein Docking Approach.
Kim NT et al.
Bioinformatics and Biology Insights, 2024
Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.
Oommen D et al.
Frontiers in Genetics, 2020
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
Benito-Vicente A et al.
International Journal of Molecular Sciences, 2018
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
Leigh S et al.
Journal of Medical Genetics, 2017
Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.
Etxebarria A et al.
Plos One, 2014
In vitro functional characterization of missense mutations in the LDLR gene.
Silva S et al.
Atherosclerosis, 2012
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