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Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency.
Department of Medicine, University of Toronto, Ontario, Canada.
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.
PMID: 1883393 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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Association of variation in hepatic lipase activity with promoter variation in the hepatic lipase gene. The LOCAT Study Invsestigators.
Tahvanainen E, Syvanne M, Frick MH, Murtomaki-Repo S, Antikainen M, Kesaniemi YA, Kauma H, Pasternak A, Taskinen MR, Ehnholm C.
J Clin Invest. 1998 Mar 1; 101(5):956-60.
[J Clin Invest. 1998]
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Hepatic lipase gene therapy in hepatic lipase-deficient mice. Adenovirus-mediated replacement of a lipolytic enzyme to the vascular endothelium.
Applebaum-Bowden D, Kobayashi J, Kashyap VS, Brown DR, Berard A, Meyn S, Parrott C, Maeda N, Shamburek R, Brewer HB Jr, et al.
J Clin Invest. 1996 Feb 1; 97(3):799-805.
[J Clin Invest. 1996]
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The molecular basis of hepatic lipase deficiency.
Hegele RA.
CMAJ. 1991 Nov 15; 145(10):1277.
[CMAJ. 1991]