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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...

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

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Source

Identifiers

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

Genes

LDLR

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

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