Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK8_het
FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.
Fath F et al.
Scientific Reports, 2021
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11
Gene polymorphism and frequencies of the NPC1L1 gene (rs2072183, rs217434 and rs217428) in Japanese patients with dyslipidemia.
Kashiwabara Y et al.
Journal of Clinical Pharmacy and Therapeutics, 2014
Niemann-Pick C1-Like 1 and cholesterol uptake.
Wang LJ et al.
Biochimica Et Biophysica Acta, 2012
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
Calandra S et al.
Journal of Lipid Research, 2011
Hepatic triglyceride content in individuals with reduced intestinal cholesterol absorption due to variants in Nieman Pick C1-like 1.
Ramirez R et al.
Hepatology (baltimore, Md.), 2011
Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers.
Wang LJ et al.
The Journal of Biological Chemistry, 2011
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