Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study).
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study / Pirillo, Angela; Garlaschelli, Katia; Arca, Marcello; Averna, Maurizio; Bertolini, Stefano; Calandra, Sebastiano; Tarugi, Patrizia; Catapano, Alberico L; Lipigen, Group; Sarzani, Riccardo. - In: ATHEROSCLEROSIS SUPPLEMENTS. - ISSN 1567-5688. - STAMPA. - 29:(2017), pp. 17-24-24. [10.1016/j.atherosclerosissup.2017.07.002]
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study
SARZANI, Riccardo
2017-01-01
Abstract
Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study).I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
