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...
Main Authors: | , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
1996-04-01
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Series: | Journal of Lipid Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S0022227520375805 |