Associated Papers
Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.
Petrazzini BO et al.
Nature Genetics, 2024
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
Huijgen R et al.
Human Mutation, 2010
Evaluation of high-resolution melting analysis for screening the LDL receptor gene.
Laurie AD et al.
Clinical Biochemistry, 2009
Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.
Defesche JC et al.
Clinical Genetics, 2008
Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
Zakharova FM et al.
Bmc Medical Genetics, 2005
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.
Lombardi MP et al.
Clinical Genetics, 2000
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