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-2.xlsx › SuppTable2
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 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
Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.
Korneva VA et al.
Cholesterol, 2017
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
Jannes CE et al.
Atherosclerosis, 2015
Mutation surveyor: an in silico tool for sequencing analysis.
Dong C et al.
Methods in Molecular Biology (clifton, N.j.), 2011
[Clinical signs of homozygous familial hypercholesterolemia].
Malyshev PP et al.
Kardiologiia, 2002
[Current concepts of the pathogenesis of familial hypercholesterolemia].
Khandaker AKh et al.
Kardiologiia, 1988
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