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Article

DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia.

Clinical genetics - 1 Jul 1992

Kotze M J, Langenhoven E, Kriek J A, Oosthuizen C J, Retief A E

Abstract excerpt

Three different point mutations of the low-density lipoprotein receptor (LDLR) gene are responsible for familial hypercholesterolemia (FH) in about 90% of Afrikaner patients. Screening of hyperlipidemic Afrikaner individuals for these founder-related mutations was performed to determine the distribution of the mutations in individuals with different lipid profiles, and to provide guidelines for screening of the...

Topics

Adult
Cholesterol, LDL
DNA
Diagnosis, Differential
Ethnicity
Female
Genetic Testing
Humans
Hyperlipoproteinemia Type II
Male
Middle Aged
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Netherlands

South Africa

Triglycerides

White People

Xanthomatosis

Source

Identifiers

PMID: 1516226
DOI: 10.1111/j.1399-0004.1992.tb03135.x

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1516226-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia.PMID 1516226Read ↗

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