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

doi:10.1016/j.atherosclerosissup.2004.09.002

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Article

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

Atherosclerosis. Supplements - 1 Dec 2004

Muller Patrick Y, Miserez André R

Abstract excerpt

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...

Topics

Genetic Heterogeneity
Humans
Hyperlipoproteinemia Type II
Molecular Diagnostic Techniques
Mutation
Receptors, LDL

Source

Open in PubMed

Identifiers

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

Genes

LDLR

Provenance

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