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Article

Model system for phenotypic characterization of sequence variations in the LDL receptor gene.

Clinical chemistry - 1 Aug 2006

Ranheim Trine, Kulseth Mari Ann, Berge Knut Erik, Leren Trond Paul

Abstract excerpt

BACKGROUND: Sequence variations in the LDL receptor (LDLR) gene cause defects of LDLR protein production and function through different molecular mechanisms. Here we describe a cell model system for the phenotypic characterization of sequence variations in the LDLR gene. Well-known sequence variations belonging to LDLR classes 2 to 5 (p.G565V, p.I161D, p.Y828C, and p.V429M) were studied in CHO and HepG2 cells....

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Source

Identifiers

PMID: 16740646
DOI: 10.1373/clinchem.2006.068627

Genes

LDLR

Variants

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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