Ontology highlight
ABSTRACT:
SUBMITTER: Jones C
PROVIDER: S-EPMC1716209 | biostudies-literature | 2007 Jan
REPOSITORIES: biostudies-literature
Jones Christopher C Garuti Rita R Michaely Peter P Li Wei-Ping WP Maeda Nobuyo N Cohen Jonathan C JC Herz Joachim J Hobbs Helen H HH
The Journal of clinical investigation 20070101 1
Genetic defects in LDL clearance result in severe hypercholesterolemia and premature atherosclerosis. Mutations in the LDL receptor (LDLR) cause familial hypercholesterolemia (FH), the most severe form of genetic hypercholesterolemia. A phenocopy of FH, autosomal recessive hypercholesterolemia (ARH), is due to mutations in an adaptor protein involved in LDLR internalization. Despite comparable reductions in LDL clearance rates, plasma LDL levels are substantially lower in ARH than in FH. To dete ...[more]