Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia
Articolo
Data di Pubblicazione:
2015
Citazione:
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia / Rabacchi, Claudio; Pisciotta, Livia; Cefalù, Angelo B.; Noto, Davide; Fresa, Raffaele; Tarugi, Patrizia Maria; Averna, Maurizio; Bertolini, Stefano; Calandra Buonaura, Sebastiano. - In: ATHEROSCLEROSIS. - ISSN 0021-9150. - 241:1(2015), pp. 79-86. [10.1016/j.atherosclerosis.2015.04.815]
Abstract:
Monogenic hypertriglyceridemia (HTG) may result from mutations in some genes which impair the intravascular lipolysis of triglyceride (TG)-rich lipoproteins mediated by the enzyme Lipoprotein lipase (LPL). Mutations in the LPL gene are the most frequent cause of monogenic HTG (familial chylomicronemia) with recessive transmission.
Tipologia CRIS:
Articolo su rivista
Keywords:
Familial chylomicronemia; Gene variants; Lipoprotein lipase; Pancreatitis; Primary hypertriglyceridemia
Elenco autori:
Rabacchi, Claudio; Pisciotta, Livia; Cefalù, Angelo B.; Noto, Davide; Fresa, Raffaele; Tarugi, Patrizia Maria; Averna, Maurizio; Bertolini, Stefano; Calandra Buonaura, Sebastiano
Link alla scheda completa:
Link al Full Text:
Pubblicato in: