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Article

Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene.

Molecular genetics and genomics : MGG - 1 Jun 2010

Tejedor M T, Cenarro A, Tejedor D, Stef M, Mateo-Gallego R, de Castro I, García-Otin A L, Monteagudo L V, Civeira F, Pocovi M

Abstract excerpt

Familial hypercholesterolemia (FH), an autosomal dominant inherited disorder resulting in increased levels of circulating plasma low-density lipoprotein (LDL), tendon xanthomas and premature coronary artery disease (CAD), is caused by defects in the LDL receptor gene (LDLR). Three widespread LDLR alterations not causing FH (c.1061-8T>C, c.2177C>T and c.829G>A) and one mutation (c.12G>A) with narrow geographical...

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Source

Identifiers

PMID: 20428891
DOI: 10.1007/s00438-010-0541-8

Genes

LDLR
CAD

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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