Associated Papers
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Functional Analysis of 3'UTR Variants at the LDLR and PCSK9 Genes in Patients with Familial Hypercholesterolemia.
Sanguino Otero J et al.
Human Mutation, 2024
Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR).
Rodríguez-Nóvoa S et al.
Atherosclerosis, 2020
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
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_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
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.
Humphries SE et al.
Journal of Molecular Medicine (berlin, Germany), 2006
Ezetimibe in the management of homozygous familial hypercholesterolaemia.
Mansfield BS et al.
Journal of Clinical Lipidology, 0
Select a paper to view details