Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
41473288 (PubMed )
Supplement: media-1.xlsx › SuppTable1
Functional characterization of 16 variants found in the LDL receptor gene.
Konečná K et al.
Journal of Lipid Research, 2025
Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.
Moradi A et al.
Frontiers in Genetics, 2021
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
Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia
Ekrami M et al.
Iranian Biomedical Journal, 2018
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Tichý L et al.
Atherosclerosis, 2012
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Dušková L et al.
Atherosclerosis, 2011
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