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Article

[Molecular genetic causes of familial hypercholesterolemia].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke - 30 Oct 1993

Leren T P

Abstract excerpt

Familial hypercholesterolemia (FH) is characterized by autosomal dominantly inherited hypercholesterolemia, xanthomas and premature coronary heart disease. The disease is caused by defective cell surface low density lipoprotein (LDL) receptors. This paper reviews the molecular defects underlying defective LDL receptors. Studies of the molecular genetics of FH have provided important information on the...

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PMID: 8236220

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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