[HTML][HTML] Evidence for a third genetic locus causing familial hypercholesterolemia: a non-LDLR, non-APOB kindred 1
Monogenically inherited hypercholesterolemia is most commonly caused by mutations at the
low density lipoprotein receptor (LDLR) locus causing familial hypercholesterolemia (FH) or
at the apolipoprotein B (APOB) locus causing the disorder familial defective apoB (FDB).
Probands from 47 kindreds with a strict clinical diagnosis of FH were selected from the
Cardiovascular Genetics Research Lipid Clinic, Utah, for molecular genetic analysis. Using
a combination of single-strand conformation polymorphism (SSCP) and direct sequencing …
low density lipoprotein receptor (LDLR) locus causing familial hypercholesterolemia (FH) or
at the apolipoprotein B (APOB) locus causing the disorder familial defective apoB (FDB).
Probands from 47 kindreds with a strict clinical diagnosis of FH were selected from the
Cardiovascular Genetics Research Lipid Clinic, Utah, for molecular genetic analysis. Using
a combination of single-strand conformation polymorphism (SSCP) and direct sequencing …