Article
Threshold Effects of Circulating Angiopoietin-Like 3 Levels on Plasma Lipoproteins.
The Journal of clinical endocrinology and metabolism - 1 Sept 2017
Fazio Sergio, Minnier Jessica, Shapiro Michael D, Tsimikas Sotirios, Tarugi Patrizia, Averna Maurizio R, Arca Marcello, Tavori Hagai
Abstract excerpt
Context: Angiopoietin-like 3 (ANGPTL3) deficiency in plasma due to loss-of-function gene mutations results in familial combined hypobetalipoproteinemia type 2 (FHBL2) in homozygotes. However, the lipid phenotype in heterozygotes is much milder and does not appear to relate directly to ANGPTL3 levels. Furthermore, the low-density lipoprotein (LDL) phenotype in carriers of ANGPTL3 mutations is unexplained....
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