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Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children

Familial HypercholesterolemiaGenetic DisorderGeneticsCardiovascular GeneticsMolecular GeneticsRecurrent Frameshift MutationDyslipidemiaHyperlipidemiaMedicineEpidemiology