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Article

An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.

Journal of medical genetics - 1 May 1990

Kotze M J, Warnich L, Langenhoven E, du Plessis L, Retief A E

Abstract excerpt

The prevalence of familial hypercholesterolaemia (FH) is significantly higher in the Afrikaans speaking population (Afrikaners) of South Africa than reported in most other populations. A founder gene effect has been proposed to explain the high FH frequency, implying that the same low density lipoprotein (LDL) receptor gene defect is present in the majority of affected Afrikaners. By using DNA amplification and...

Topics

Alleles
DNA
Exons
Female
Gene Frequency
Humans
Hyperlipoproteinemia Type II
Male
Mutation
Pedigree
Polymerase Chain Reaction
Receptors, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

South Africa

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Identifiers

PMID: 2352257
DOI: 10.1136/jmg.27.5.298
PMCID: PMC1017079

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2352257-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.PMID 2352257Read ↗

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Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.Semantic proximity Read ↗

Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK.Semantic proximity Read ↗

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