Associated Papers
Enhancing the detection of familial hypercholesterolaemia in general practice: A model for supporting genetic cascade testing in the community.
Pang J et al.
European Journal of Human Genetics : Ejhg, 2026
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
OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues.
Larrea-Sebal A et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
38258479 (PubMed )
Supplement: ADVS-11-2305177-s001.pdf
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
Genetic Diagnosis of Familial Hypercholesterolemia in Asia.
Huang CC et al.
Frontiers in Genetics, 2020
Recently reported familial hypercholesterolemia-related mutations from cases in the Middle East and North Africa region.
Awan ZA et al.
Current Opinion in Lipidology, 2019
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
Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia.
Tada H et al.
European Heart Journal, 2017
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
Al-Khateeb A et al.
Bmc Medical Genetics, 2011
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