A New Italian Case of Lipoprotein Lipase Deficiency: A Leu365→Val Change Resulting in Loss of Enzyme Activity
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency;Journal of Clinical Lipidology;2016-03
2. Identification of Genetic Variants in Endothelial Lipase in Persons With Elevated High-Density Lipoprotein Cholesterol;Circulation;2002-09-10
3. Lipoprotein lipase: physiology, biochemistry, and molecular biology;Frontiers in Bioscience;2001
4. Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6;Annales de Génétique;2001-01
5. References;Heparin-Binding Proteins;1998
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