Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR)
Author:
Funder
ISCIII-Instituto de Salud Carlos III, Spain
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine
Reference19 articles.
1. Mosaicism in health and disease - clones picking up speed;Forsberg;Nat. Rev. Genet.,2017
2. Familial Hypercholesterolemia. The Metabolic and Molecular Bases of Inherited Disease,2001
3. Prevalence of familial hypercholesterolemia in the 1999 to 2012 United States national health and nutrition examination surveys (NHANES);De Ferranti;Circulation,2016
4. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society;Nordestgaard;Eur. Heart J.,2013
5. The UCL low-density lipoprotein receptor gene variant database: pathogenicity update;Leigh;J. Med. Genet.,2017
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