Familial hypercholesterolemia is a genetic disorder caused by pathogenic or likely pathogenic variants in four key genes: The functional analysis was performed using the HEK293T- The experimental stud Show more
Familial hypercholesterolemia is a genetic disorder caused by pathogenic or likely pathogenic variants in four key genes: The functional analysis was performed using the HEK293T- The experimental study revealed an impaired activity of the c.662A > G p. (Asp221Gly), c.1775G > A p. (Gly592Glu), and c.2483delA p. (Tyr828Phefs∗101) The results provide functional evidence for the activity of selected Show less