Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia.

Gene geography : a computerized bulletin on human gene frequencies - 1 Apr 1996

Defesche J C, Van Diermen D E, Hayden M R, Kastelein J P

Abstract excerpt

Of the three major Afrikaner founder mutations, responsible for more than 95% of Familial Hypercholesterolemia cases among South African Afrikaners, one mutation called V408M or FHAfrikaner-2 was identified in the Netherlands. Subsequent analysis of a group of Canadian patients of Dutch origin with Familial Hypercholesterolemia revealed the presence of this mutation in western Canada. The founder of the Canadian...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Canada
Share to DNA Mutational Analysis

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

Share to Haplotypes

Share to Hyperlipoproteinemia Type II

Share to Mutation

Share to Netherlands

Share to Pedigree

Share to Receptors, LDL

Source

Identifiers

PMID: 8913716

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia.PMID 8913716Read ↗

South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population.Semantic proximity Read ↗

Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas.Semantic proximity Read ↗

Monogenic primary hypercholesterolaemia in South Africa.Semantic proximity Read ↗

Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations.Semantic proximity Read ↗

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa.Semantic proximity Read ↗

Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and Afrikaners.Semantic proximity Read ↗

Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.Semantic proximity Read ↗

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.Semantic proximity Read ↗

Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa.Semantic proximity Read ↗

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

The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners.Semantic proximity Read ↗

Identification of a common founder couple for 40 South African Afrikaner families with Parkinson's disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.