Article
Elevated LDL triglyceride concentrations in subjects heterozygous for the hepatic lipase S267F variant.
Arteriosclerosis, thrombosis, and vascular biology - 1 Aug 1998
Hegele R A, Breckenridge W C, Cox D W, Maguire G F, Little J A, Connelly P W
Abstract excerpt
Although naturally occurring loss-of-function mutations in human hepatic lipase (HL) have been described, the biochemical phenotype of heterozygous HL deficiency remains ill defined. This may be due to the relatively small numbers of heterozygous adult carriers of HL mutations in index kindreds. We have identified several new heterozygotes for the catalytically inactive, nonsecreted HL variant S267F in the...
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