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ANGELO BALDASSARE CEFALU'

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

  • Autori: Noto, D.; Cefalu', A.; Valenti, V.; Fayer, F.; Pinotti, E.; Ditta, M.; Spina, R.; Vigna, G.; Yue, P.; Kathiresan, S.; Tarugi, P.; Averna, M.
  • Anno di pubblicazione: 2012
  • Tipologia: 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).