Article

Molecular Screening of Familial Hypercholesterolemia in the Icelandic Population

2018-09-27

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 indivi...

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Literature Corpus work: c1f5b9ff-d259-5992-bc5d-278dd3d3925b
DOI: 10.1101/425975

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