Associated Papers
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Sánchez-Hernández RM et al.
Circulation. Cardiovascular Genetics, 2016
27784735 (PubMed )
Supplement: 001545_supplemental_material.pdf
Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
Etxebarria A et al.
Human Mutation, 2012
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