A compound heterozygote for hepatic lipase gene mutations Leu334–>Phe and Thr383–>Met: correlation between hepatic lipase activity and phenotypic expression

A compound heterozygote for hepatic lipase gene mutations Leu334–>Phe and Thr383–>Met: correlation between hepatic lipase activity and phenotypic expression

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 T38...

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Bibliographic Details
Main Authors: P Knudsen, M Antikainen, S Ehnholm, M Uusi-Oukari, H Tenkanen, S Lahdenperä, J Kahri, M Tilly-Kiesi, A Bensadoun, M R Taskinen, C Ehnholm
Format: Article
Language:English
Published: Elsevier 1996-04-01
Series:Journal of Lipid Research
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520375805

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