Associated Papers
Risk for coronary artery disease among individuals with normal low-density lipoprotein cholesterol (LDL-C) levels.
Shi Z et al.
International Journal of Cardiology. Cardiovascular Risk and Prevention, 2026
41585861 (PubMed )
Supplement: mmc1.xlsx › sTable_1
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.
Islam MM et al.
Jacc. Basic to Translational Science, 2025
40131152 (PubMed )
Supplement: mmc1.pdf
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
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
Thormaehlen AS et al.
Plos Genetics, 2015
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
Humphries SE et al.
Current Opinion in Lipidology, 2008
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.
Leigh SE et al.
Annals of Human Genetics, 2008
[Familial amino acid metabolic disorders (alkaptonuria, phenylpyruvic oligophrenia. congenital cataract in the same family)].
BABEL J et al.
Schweizerische Medizinische Wochenschrift, 1960
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