Associated Papers
Prevalence and Clinical Characteristics of Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome according to the Current Japanese Guidelines: Insight from the EXPLORE-J study.
Takeji Y et al.
Journal of Atherosclerosis and Thrombosis, 2025
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf
Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.
Harada-Shiba M et al.
Journal of Atherosclerosis and Thrombosis, 2022
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.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
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
Sharifi M et al.
Metabolism: Clinical and Experimental, 2016
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.
Usifo E et al.
Annals of Human Genetics, 2012
Evaluation of high-resolution melting analysis for screening the LDL receptor gene.
Laurie AD et al.
Clinical Biochemistry, 2009
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