Associated Papers
Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.
Yazıcı H et al.
Journal of Clinical Lipidology, 2025
Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.
Li W et al.
Stroke and Vascular Neurology, 2024
37495379 (PubMed )
Supplement: svn-2022-002158supp001.pdf
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
Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia.
Rodríguez-Jiménez C et al.
Human Mutation, 2019
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