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Article

Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and Afrikaners.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde - 1 May 1995

Kotze M J, Langenhoven E, Theart L, Loubser O, Micklem A, Oosthuizen C J

Abstract excerpt

Three low-density lipoprotein receptor (LDLR) gene mutations were previously shown to cause familial hypercholesterolaemia (FH) in up to 90% of affected Afrikaners. Association of each mutation with a single chromosomal background provided molecular genetic evidence that the proposed 'founder gene effect' was responsible for the high prevalence of FH among white Afrikaners. In this study we report the...

Topics

Base Sequence
Black People
Ethnicity
Founder Effect
Humans
Hyperlipoproteinemia Type II
Molecular Sequence Data
Mutation
Netherlands
Polymorphism, Genetic
Receptors, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

South Africa

White People

Source

Identifiers

PMID: 7638684

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7638684-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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