Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
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.
Muller
Patrick Y
PY
Department of Clinical-Biological Sciences, Cardiovascular Genetics, Institute of Biochemistry and Genetics, University of Basel, Vesalgasse 1, 4051 Basel, Switzerland.
Miserez
André R
AR
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*
D011973:Receptors, LDL