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-5.xlsx › SuppTable5
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.
Katsanis N et al.
Human Genomics, 2025
Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.
Ferch M et al.
European Journal of Preventive Cardiology, 2025
39535057 (PubMed )
Supplement: zwae331_supplementary_data.docx
Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.
Tichý L et al.
Physiological Research, 2017
The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.
Gabčová D et al.
Physiological Research, 2017
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Tichý L et al.
Atherosclerosis, 2012
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