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Article

Molecular screening of familial hypercholesterolemia in Icelanders.

Scandinavian journal of clinical and laboratory investigation - 1 Oct 2020

Kellogg Greg, Thorsson Bolli, Cai Ying, Wisotzkey Robert, Pollock Andrew, Akana Matthew, Fox Rebecca, Jansen Michael, Gudmundsson Elias F, Patel Bonny, Chang Chihyu, Jaremko Malgorzata, Puig Oscar, Gudnason Vilmundur, Emilsson Valur

Abstract excerpt

Familial hypercholesterolemia (FH) is a monogenic disease characterized by a lifelong exposure to high LDL-C levels that can lead to early onset coronary heart disease (CHD). The main causes of FH identified to date include loss-of-function mutations in LDLR or APOB, or gain-of-function mutations in PCSK9. Early diagnosis and genetic testing of FH suspects is critical for improved prognosis of affected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32706999
DOI: 10.1080/00365513.2020.1795919

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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