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[Screening for mutations in apolipoprotein B genes in a group of patients with hyperlipoproteinemia].

Casopis lekaru ceskych - 19 Jan 2001

Grombiríková H, Freiberger T, Kuhrová V, Soska V, Nedomová K

Abstract excerpt

BACKGROUND: Familial defective apolipoprotein (apo) B-100 (FDB) is a common inherited metabolic disorder. Reduced binding of the apo B-100, the major protein of LDL particles, to LDL receptor results in marked hypercholesterolemia. FDB is caused particularly by an arginine to glutamine substitution at the codon for amino acid 3500 of the apo B-100. The aim of this study was to determine mutations potentially...

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Identifiers

PMID: 11242979

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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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