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Article

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

Human mutation - 1 Sept 2001

Kuhrová V, Francová H, Zapletalová P, Freiberger T, Fajkusová L, Hrabincová E, Slováková R, Kozák L

Abstract excerpt

The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter region and coding sequence of the low density lipoprotein receptor (LDLR) gene in 130 patients from 68 unrelated...

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Share to Cholesterol
Share to Cholesterol, LDL
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Mutagenesis, Insertional

Share to Receptors, LDL

Share to Sequence Deletion

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Source

Identifiers

PMID: 11524740
DOI: 10.1002/humu.1185

Genes

LDLR

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.

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