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Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia

  • Authors: Noto, D; Cefalù, A; Valenti, V; Fayer, F; Pinotti, E; Ditta, M; Spina, R; Vigna, G; Yue, P; Kathiresan, S; Tarugi, P; Averna, M
  • Publication year: 2012
  • Type: Articolo in rivista (Articolo in rivista)
  • OA Link: http://hdl.handle.net/10447/73838

Abstract

Mutations of the ANGPTL3 gene have been associated with a novel form of primary hypobetalipoproteinemia, the combined hypolipidemia (cHLP), characterized by low total cholesterol and low HDL-cholesterol levels. The aim of this work is to define the role of ANGPTL3 gene as determinant of the combined hypolipidemia phenotype in 2 large cohorts of 913 among American and Italian subjects with primary hypobetalipoproteinemia (total cholesterol<5th percentile).