Article
A compound heterozygote for hepatic lipase gene mutations Leu334-->Phe and Thr383-->Met: correlation between hepatic lipase activity and phenotypic expression.
Journal of lipid research - 1 Apr 1996
Knudsen P, Antikainen M, Ehnholm S, Uusi-Oukari M, Tenkanen H, Lahdenperä S, Kahri J, Tilly-Kiesi M, Bensadoun A, Taskinen M R, Ehnholm C
Abstract excerpt
We have characterized the molecular basis for familial hepatic lipase (HL) deficiency in a Finnish family. In the propositus, the HL deficiency results from compound heterozygosity for two rare HL gene mutations, a previously unknown missense mutation designated L334F and the previously reported T383M mutation. These mutations were introduced into human HL cDNA by site-directed mutagenesis and the constructs...
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