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LDLR variant classification through activity-normalized prime editing screening.
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Biorxiv : the Preprint Server for Biology, 2025
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Supplement: media-2.xlsx › SuppTable2
Current Status and Clinical Characteristics of Familial Hypercholesterolemia Patients in Korea: A Multicenter, Real-World Experience.
Kim KA et al.
Diagnostics (basel, Switzerland), 2025
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
Taylor A et al.
Clinical Genetics, 2007
Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.
Bertolini S et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2000
Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia.
Deiana L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2000
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