Ontology highlight
ABSTRACT:
SUBMITTER: Huijgen R
PROVIDER: S-EPMC3329397 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Huijgen R R Fouchier S W SW Denoun M M Hutten B A BA Vissers M N MN Lambert G G Kastelein J J P JJP
Journal of lipid research 20120227 5
The extent of hypercholesterolemia varies considerably in patients with familial hypercholesterolemia (FH). We hypothesized that the variability of the FH phenotype might be partly explained by variation in proprotein convertase subtilisin kexin type 9 (PCSK9) activity. Individuals between 18 and 53 years of age who had been tested for a pathogenic LDLR or APOB mutation were eligible. Mutation carriers with a LDL-C level below the 75(th) percentile (called "FH low") were selected, as well as tho ...[more]