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Article

Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2001

Vergotine J, Thiart R, Langenhoven E, Hillermann R, De Jong G, Kotze M J

Abstract excerpt

In this report on the outcome of the first prenatal diagnosis performed for familial hypercholesterolemia (FH) in a South African family, we aim to demonstrate the value of a population-directed screening strategy to identify FH patients in populations with an enrichment for certain low-density lipoprotein receptor (LDLR) gene mutations. Prenatal diagnosis was offered to an Afrikaner couple, both partners...

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PMID: 11491306

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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