Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
Author:
Funder
Pfizer
Fondation Leducq
Fundação para a Ciência e a Tecnologia
British Heart Foundation
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine
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4. Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation;Marduel;Hum. Mutat.,2013
5. The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes;Cenarro;J. Clin. Endocrinol. Metab.,2016
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