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ANGELO BALDASSARE CEFALU'

IL GENE PCSK9: UN NUOVO GENE IMPLICATO NEL CONTROLLO DELLA COLESTEROLEMIA

  • Authors: Cefalu', A.B.; Amato, S.; Fertitta, E.; Fayer, F.; Valenti, V.; Gueli, M.C.; Di Blasi, U.; Pagano, M.; Nardi, I.; Cusumano, G.; Gulotta, P.; Raffa, A.; Doveri, T.; Averna, M.
  • Publication year: 2007
  • Type: Articolo in rivista (Articolo in rivista)
  • OA Link: http://hdl.handle.net/10447/15179

Abstract

The distribution of cholesterol plasma is regulated by complex interactions between genes and environmental factors. Mutations of PCSK9 gene seem to modulate the levels of LDL-C. Mutations of PCSK9 gene with gain of function are associated to hypercholesterolemia and mutations with loss of function determine hypocholesterolemia.