Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs33)) causing familial hypercholesterolemia in Saudi Arab homozygous children

Familial hypercholesterolemia (FH) is an autosomal dominant disease, predominantly caused by variants in the low-density lipoprotein (LDL) receptor gene (LDLR). Herein, we describe genetic analysis of severely affected homozygous FH patients who were mostly resistant to statin therapy and were manag...

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