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
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
Muller PY et al.
Atherosclerosis. Supplements, 2004
LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy.
Liguori R et al.
Human Mutation, 2001
Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.
Rødningen OK et al.
Human Mutation, 1999
LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.
Varret M et al.
Nucleic Acids Research, 1998
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
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