Diagnostic challenge of an APOB variant of uncertain significance resolved by transheterozygosity with a pathological LDLR variant and clinical response to therapy
- PMID: 38290940
- DOI: 10.1016/j.atherosclerosis.2024.117460
Diagnostic challenge of an APOB variant of uncertain significance resolved by transheterozygosity with a pathological LDLR variant and clinical response to therapy
Keywords: APOB; Ezetimibe; Familial hypercholesterolemia; LDLR; PCSK9; Statin.
Comment on
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Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease.Atherosclerosis. 2023 Dec;386:117327. doi: 10.1016/j.atherosclerosis.2023.117327. Epub 2023 Oct 12. Atherosclerosis. 2023. PMID: 37848354
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