Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations.

doi:10.1161/01.atv.14.3.381

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Article

Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations.

Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Mar 1994

Durstenfeld A, Ben-Zeev O, Reue K, Stahnke G, Doolittle M H

Abstract excerpt

Individuals with hepatic lipase (HL) deficiency are often characterized by elevated levels of triglycerides and cholesterol and may be subject to premature atherosclerosis. Missense mutations in the HL gene have been identified in two affected families: substitutions of serine for phenylalanine a...

Topics

Base Sequence
Humans
Lipase
Liver
Molecular Sequence Data
Mutagenesis, Site-Directed
Mutation

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