Associated Papers
Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients.
Zahwo RA et al.
Human Genomics, 2025
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
A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene.
Nikasa P et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
Pirillo A et al.
Atherosclerosis. Supplements, 2017
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
Soutar AK et al.
Nature Clinical Practice. Cardiovascular Medicine, 2007
Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis.
Di Costanzo A et al.
Journal of Clinical Lipidology, 0
Select a paper to view details