Associated Papers
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
Dron JS et al.
Jama Cardiology, 2023
Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.
Doi T et al.
Journal of the American Heart Association, 2021
33533259 (PubMed )
Supplement: JAH3-10-e018263-s001.pdf
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
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