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Article

[Direct detection of mutations in the LDL receptor gene in patients with familial hypercholesterolemia].

Casopis lekaru ceskych - 14 Dec 1998

Freiberger T, Kuhrová V, Kozák L, Soska V, Pekarík V, Mĕrínská L, Fajkusová L, Francová H

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia is one of the most frequent hereditary metabolic diseases. As a result of the functional disorder of the molecule of the LDL receptor LDL cholesterol is not sufficiently eliminated from the blood stream and exerts an atherogenic effect. The objective of t...

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PMID: 10081189

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10081189-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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[Direct detection of mutations in the LDL receptor gene in patients with familial hypercholesterolemia].PMID 10081189Read ↗

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Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.Semantic proximity Read ↗

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[Familial hypercholesterolemia in the Czech Republic in 2016].Semantic proximity Read ↗

[Familial hypercholesterolemia and mutations of the gene for low-density lipoproteins in Italy].Semantic proximity Read ↗

[Molecular genetics in pure primary hypercholesterolemia].Semantic proximity Read ↗

[A genetic and clinical study in a family with familial hypercholesterolemia].Semantic proximity Read ↗

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.Semantic proximity Read ↗

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.Semantic proximity Read ↗

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.Semantic proximity Read ↗

[The Familial Hypercholesterolemia Caused by a Novel Human Low Density Lipoprotein Receptor Gene Mutation c.1327 T>C (p.W433R)].Semantic proximity Read ↗

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