Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland

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 charact...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Clinical and Population Studies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8454500/
https://www.ncbi.nlm.nih.gov/pubmed/34407635
http://dx.doi.org/10.1161/ATVBAHA.120.315904

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