Associated Papers
Identification and characterization of NPC1L1 variants in Uygur and Kazakh with extreme low-density lipoprotein cholesterol.
Yuan Q et al.
Biochemical and Biophysical Research Communications, 2016
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
Molecular mechanisms of disease-causing missense mutations.
Stefl S et al.
Journal of Molecular Biology, 2013
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
Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes.
Fahmi S et al.
Human Molecular Genetics, 2008
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