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

doi:10.1161/01.atv.15.6.765

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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...

Topics

Adult
Animals
Apolipoproteins E
Base Sequence
CHO Cells
Cricetinae
Heterozygote
Humans
Hyperlipoproteinemia Type II
Lipoproteins, LDL
Lipoproteins, VLDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Sequence Data

Mutagenesis, Site-Directed

Mutation

Phenotype

Receptors, LDL

Recombinant Proteins

Source

Open in PubMed

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7773731-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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