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Article

A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.

Human molecular genetics - 1 Apr 2013

Gao Feng, Ihn Hansel E, Medina Marisa W, Krauss Ronald M

Abstract excerpt

A common synonymous single nucleotide polymorphism in exon 12 of the low-density lipoprotein receptor (LDLR) gene, rs688, has been associated with increased plasma total and LDL cholesterol in several populations. Using immortalized lymphoblastoid cell lines from a healthy study population, we confirmed an earlier report that the minor allele of rs688 is associated with increased exon 12 alternative splicing (P <...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 23297366
DOI: 10.1093/hmg/dds559
PMCID: PMC3596853

Genes

LDLR
PCSK9

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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