A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family
Author:
Funder
National Natural Science Foundation of China
Natural Science Foundation of Shandong Province
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference24 articles.
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3. The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors;CG Davis;Cell,1986
4. Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: a phase 2 randomised controlled trial;EA Stein;The Lancet,2012
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