title: Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
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.
authors.affiliation: Department of Clinical-Biological Sciences, Cardiovascular Genetics, Institute of Biochemistry and Genetics, University of Basel, Vesalgasse 1, 4051 Basel, Switzerland.
authors.forename: Patrick Y
authors.initials: PY
authors.lastname: Muller
authors.forename: André R
authors.initials: AR
authors.lastname: Miserez
mesh_terms: D018740:Genetic Heterogeneity; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics*; D025202:Molecular Diagnostic Techniques; D009154:Mutation / Q000235:genetics*; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL