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Article

A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia

1 Dec 2018

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high plasma LDL-C (low-density lipoprotein-cholesterol) levels. The vast majority of FH patients carry a mutation in the coding region of LDLR, APOB, or PCSK9. We set out to identify the culprit genetic defect in a large family with clinical FH, in whom no mutations were identified in the coding regions of these FH genes....

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PMID: 30562117
DOI: 10.1161/circgen.118.002385

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