Associated Papers
Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension-associated genes.
Ullah MF et al.
Biomolecules & Biomedicine, 2026
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
[Homozygous hypercholesterolemia - new therapeutic options in cases with complete lack of LDL- receptor].
Mellwig KP et al.
Deutsche Medizinische Wochenschrift (1946), 2016
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P et al.
Human Mutation, 2004
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