Genetic Studies in Definite/probable FH in Argentina

Pablo Corral,Andrew Geller,Eliana Polisecki,Virginia Banares, Graciela Lopez,Gabriela Berg,Leonardo Cacciagiu,Robert Hegele,Ernst Schaefer,Laura Schreier

Atherosclerosis（2017）

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摘要

Aim: Familial hypercholesterolemia (FH) is underdiagnosed and undertreated worldwide. We launched a detection program in Buenos Aires. Using Dutch Lipid Clinic Criteria (DLCC), the prevalence of definite diagnosis of FH was 1/186. The current aim was to ascertain genetic causes in our FH patients with a DLCC score > 6.

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