Associated Papers
LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.
Bogsrud MP et al.
European Heart Journal, 2025
41127896 (PubMed )
Supplement: ehaf815_supplementary_data.pdf
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS7_tiling_screen.xlsx › TableSX_tiling_screen
Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways.
Cameron J et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2012
Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene.
Lind S et al.
Atherosclerosis, 2002
Solution structure of the LDL receptor EGF-AB pair: a paradigm for the assembly of tandem calcium binding EGF domains.
Saha S et al.
Structure (london, England : 1993), 2001
Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.
Rødningen OK et al.
Human Mutation, 1999
Molecular genetics of familial hypercholesterolaemia in Norway.
Leren TP et al.
Journal of Internal Medicine, 1997
[Application of gene technology in the diagnosis of familial hypercholesterolemia].
Leren TP et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke, 1997
Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.
Gundersen KE et al.
Clinical Genetics, 1996
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