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

doi:10.1007/s00438-010-0541-8

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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...

Topics

Coronary Disease
Evolution, Molecular
Family Characteristics
Haplotypes
Humans
Hyperlipoproteinemia Type II
Linkage Disequilibrium
Musculoskeletal Diseases
Mutant Proteins
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

Receptors, LDL

Sequence Analysis, DNA

Spain

Tendons

Xanthomatosis

Source

Open in PubMed

Identifiers

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

Genes

LDLR
CAD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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