Familial dyslipidemias: Genotype-phenotype relationship
Author:
Publisher
Elsevier BV
Subject
Nutrition and Dietetics,Endocrinology,Endocrinology, Diabetes and Metabolism
Reference11 articles.
1. Molecular basis of familial hypercholesterolemia;Bruikman;Curr Opin Cardiol.,2017
2. 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
3. LOVD v.2.0: the next generation in gene variant databases;Fokkema;Hum Mutat.,2011
4. Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel;Santos;Lancet Diabetes Endocrinol.,2016
5. The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9;Sánchez-Hernández;Atherosclerosis.,2019
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