Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia
Author:
Funder
National Science, Technology and Innovation Plan (MAARIFAH), Kingdom of Saudi Arabia
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine
Reference34 articles.
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3. 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
4. Homozygous autosomal dominant hypercholesterolaemia: prevalence, diagnosis, and current and future treatment perspectives;Sjouke;Curr. Opin. Lipidol.,2015
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2. Identification and functional characterization of two rare LDLR stop gain variants (p.c231*and p.R744*) in Saudi familial hypercholesterolemia patients;PANMINERVA MED;2023
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