Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia

Patrick Y Muller; André R Miserez

doi:10.1016/j.atherosclerosissup.2004.09.002

Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia

Atheroscler Suppl. 2004 Dec;5(5):1-5. doi: 10.1016/j.atherosclerosissup.2004.09.002.

Authors

Patrick Y Muller¹, André R Miserez

Affiliation

¹ Department of Clinical-Biological Sciences, Cardiovascular Genetics, Institute of Biochemistry and Genetics, University of Basel, Vesalgasse 1, 4051 Basel, Switzerland.

PMID: 15556092
DOI: 10.1016/j.atherosclerosissup.2004.09.002

Abstract

Molecular genetic testing for presymptomatic identification of subjects affected by familial hypercholesterolaemia (FH) is difficult due to the heterogeneity of the mutations in the gene encoding the low-density lipoprotein receptor (LDLR) in most populations. This investigation presents a detailed analysis of comparable, country-specific prevalence data of LDLR mutations in subjects with clinically defined FH and assesses the heterogeneous mutation diversity observed in most geographic regions.

MeSH terms

Genetic Heterogeneity*
Humans
Hyperlipoproteinemia Type II / diagnosis
Hyperlipoproteinemia Type II / genetics*
Molecular Diagnostic Techniques
Mutation / genetics*
Receptors, LDL / genetics*

Substances

Receptors, LDL