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Article

South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population.

Human genetics - 1 Dec 1993

Defesche J C, van Diermen D E, Lansberg P J, Lamping R J, Reymer P W, Hayden M R, Kastelein J J

Abstract excerpt

In South African Afrikaners, three point mutations in the gene coding for the low-density lipoprotein (LDL)-receptor are responsible for more than 95% of the cases of familial hypercholesterolemia (FH). To investigate whether one or more of these mutations originated in The Netherlands, a large group of Dutch heterozygous FH patients was screened for the presence of these three mutations. Of these, a missense...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 7903269
DOI: 10.1007/BF00420940

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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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South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population.PMID 7903269Read ↗

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