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.
CEFALU' AB, AMATO S, FERTITTA E, FAYER F, VALENTI V, GUELI MC, et al. (2007). IL GENE PCSK9: UN NUOVO GENE IMPLICATO NEL CONTROLLO DELLA COLESTEROLEMIA. ACTA MEDICA MEDITERRANEA, 22(1), 11-14.
IL GENE PCSK9: UN NUOVO GENE IMPLICATO NEL CONTROLLO DELLA COLESTEROLEMIA
CEFALU', Angelo Baldassare;AMATO, Salvatore;FERTITTA, Emanuela;FAYER, Francesca;VALENTI, Vincenza;GUELI, Maria Concetta;CUSUMANO, Gaspare;GULOTTA, Paolo;RAFFA, Alessandro;DOVERI, Tiziana;AVERNA, Maurizio
2007-01-01
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.
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