Ontology highlight
ABSTRACT:
SUBMITTER: Danyel M
PROVIDER: S-EPMC6700100 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
Danyel Magdalena M Ott Claus-Eric CE Grenkowitz Thomas T Salewsky Bastian B Hicks Andrew A AA Fuchsberger Christian C Steinhagen-Thiessen Elisabeth E Bobbert Thomas T Kassner Ursula U Demuth Ilja I
Scientific reports 20190819 1
Familial hypercholesterolemia (FH) is characterised by elevated serum levels of low-density lipoprotein cholesterol (LDL-C) and a substantial risk for cardiovascular disease. The autosomal-dominant FH is mostly caused by mutations in LDLR (low density lipoprotein receptor), APOB (apolipoprotein B), and PCSK9 (proprotein convertase subtilisin/kexin). Recently, STAP1 has been suggested as a fourth causative gene. We analyzed STAP1 in 75 hypercholesterolemic patients from Berlin, Germany, who are n ...[more]