Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.S267F
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LPL

NM_000237.3:p.S267F

Associated Papers

Hepatic lipase, genetically elevated high-density lipoprotein, and risk of ischemic cardiovascular disease.

Johannsen TH et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Lipoprotein metabolism in subjects with hepatic lipase deficiency.

Tilly-Kiesi M et al.

Metabolism: Clinical and Experimental, 2004

Detection of missense mutations in the genes for lipoprotein lipase and hepatic triglyceride lipase in patients with dyslipidemia undergoing coronary angiography.

Moennig G et al.

Atherosclerosis, 2000

The role of hepatic lipase in lipoprotein metabolism.

Connelly PW

Clinica Chimica Acta; International Journal of Clinical Chemistry, 1999

Hepatic lipase deficiency.

Connelly PW et al.

Critical Reviews in Clinical Laboratory Sciences, 1998

Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations.

Durstenfeld A et al.

Arteriosclerosis and Thrombosis : a Journal of Vascular Biology, 1994

Gene-environment interactions in atherosclerosis.

Hegele RA

Molecular and Cellular Biochemistry, 1992

Human hepatic lipase mutations and polymorphisms.

Hegele RA et al.

Human Mutation, 1992

Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency.

Hegele RA et al.

Biochemical and Biophysical Research Communications, 1991

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."