Associated Papers
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
Garcia-Garcia AB et al.
Atherosclerosis, 2011
The discrete and combined effect of SREBP-2 and SCAP isoforms in the control of plasma lipids among familial hypercholesterolaemia patients.
Durst R et al.
Atherosclerosis, 2006
Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?
Blesa S et al.
Clinical Chemistry, 2006
The molecular basis of familial hypercholesterolemia in The Netherlands.
Fouchier SW et al.
Human Genetics, 2001
Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair.
Jeon H et al.
Nature Structural Biology, 2001
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.
Cenarro A et al.
Human Mutation, 1998
A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia.
Lombardi P et al.
Clinical Genetics, 1997
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