Article
Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.
Arteriosclerosis, thrombosis, and vascular biology - 1 Oct 2021
Björnsson Eythór, Thorgeirsson Guðmundur, Helgadóttir Anna, Thorleifsson Guðmar, Sveinbjörnsson Garðar, Kristmundsdóttir Snaedís, Jónsson Hákon, Jónasdóttir Aðalbjörg, Jónasdóttir Áslaug, Sigurðsson Ásgeir, Guðnason Thórarinn, Ólafsson Ísleifur, Sigurðsson Emil L, Sigurðardóttir Ólöf, Viðarsson Brynjar, Baldvinsson Magnús, Bjarnason Ragnar, Danielsen Ragnar, Matthíasson Stefán E, Thórarinsson Björn L, Grétarsdóttir Sólveig, Steinthórsdóttir Valgerður, Halldórsson Bjarni V, Andersen Karl, Arnar Davíð O, Jónsdóttir Ingileif, Guðbjartsson Daníel F, Hólm Hilma, Thorsteinsdóttir Unnur, Sulem Patrick, Stefánsson Kári
Abstract excerpt
Objective: Familial hypercholesterolemia (FH) is traditionally defined as a monogenic disease characterized by severely elevated LDL-C (low-density lipoprotein cholesterol) levels. In practice, FH is commonly a clinical diagnosis without confirmation of a causative mutation. In this study, we sought to characterize and compare monogenic and clinically defined FH in a large sample of Icelanders. Approach and...
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