Article
Human hepatic lipase mutations and polymorphisms.
Human mutation - 1 Jan 1992
Hegele R A, Tu L, Connelly P W
Abstract excerpt
Human hepatic lipase (HL) is a 477 residue glycoprotein that hydrolyzes triglycerides from plasma lipoproteins. Familial HL deficiency is a rare recessive disorder that is characterized by premature atherosclerosis and abnormal circulating lipoproteins. While studying the HL gene from the world's index family with HL deficiency, we identified four coding sequence variants of HL, one in each of exons 4, 5, 6, and...
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