title: Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency.
abstract: In a kindred with three hyperlipidemic subjects who had premature atherosclerosis and complete deficiency of hepatic lipase activity, we had previously identified a novel structural hepatic lipase gene variant. We now report the identification of three more hepatic lipase gene mutations in this family and demonstrate that compound heterozygosity for two hepatic lipase mutations (designated S267F and T383M) underlies hepatic lipase deficiency.
authors.affiliation: Department of Medicine, University of Toronto, Ontario, Canada.
authors.forename: R A
authors.initials: RA
authors.lastname: Hegele
authors.forename: J A
authors.initials: JA
authors.lastname: Little
authors.forename: P W
authors.initials: PW
authors.lastname: Connelly
mesh_terms: D000595:Amino Acid Sequence; D001161:Arteriosclerosis / Q000201:enzymology / Q000235:genetics; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004247:DNA / Q000235:genetics; D005091:Exons; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D006949:Hyperlipidemias / Q000201:enzymology / Q000235:genetics*; D008049:Lipase / Q000172:deficiency / Q000235:genetics*; D008099:Liver / Q000201:enzymology*; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D003062:Codon; D004247:DNA; D008049:Lipase