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Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020.

Atherosclerosis - 1 Apr 2021

Leren Trond P, Bogsrud Martin Prøven

Abstract excerpt

BACKGROUND AND AIMS: In this study, we present the status regarding molecular genetic testing for mutations in the genes encoding the low density lipoprotein receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) as causes of autosomal dominant hypercholesterolemia (ADH) in Norway. METHODS: We have extracted data from the laboratory information management system at Unit...

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PMID: 33740630
DOI: 10.1016/j.atherosclerosis.2021.02.022

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