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Article

FH Afrikaner-3 LDL receptor mutation results in defective LDL receptors and causes a mild form of familial hypercholesterolemia.

Arteriosclerosis, thrombosis, and vascular biology - 1 Jun 1995

Graadt van Roggen J F, van der Westhuyzen D R, Coetzee G A, Marais A D, Steyn K, Langenhoven E, Kotze M J

Abstract excerpt

Three founder-related gene mutations (FH Afrikaner-1, -2, and -3) that affect the LDL receptor are responsible for 90% of the familial hypercholesterolemia (FH) in South African Afrikaners. Patients heterozygous for the FH Afrikaner-1 (FH1) mutation, which results in receptors having approximately 20% of normal receptor activity, have significantly lower plasma cholesterol levels and milder clinical symptoms than...

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PMID: 7773731
DOI: 10.1161/01.atv.15.6.765

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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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