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Article

Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

European journal of human genetics : EJHG - 1 May 2013

Oosterveer Daniëlla M, Versmissen Jorie, Defesche Joep C, Sivapalaratnam Suthesh, Yazdanpanah Mojgan, Mulder Monique, van der Zee Leonie, Uitterlinden André G, van Duijn Cornelia M, Hofman Albert, Kastelein John J P, Aulchenko Yurii S, Sijbrands Eric J G

Abstract excerpt

Genome-wide association (GWA) studies have discovered multiple common genetic risk variants related to common diseases. It has been proposed that a number of these signals of common polymorphisms are based on synthetic associations that are generated by rare causative variants. We investigated if mutations in the low-density lipoprotein receptor (LDLR) gene causing familial hypercholesterolemia (FH, OMIM #143890)...

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Identifiers

PMID: 22968135
DOI: 10.1038/ejhg.2012.207
PMCID: PMC3641383

Genes

LDLR

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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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