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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 at amino acid 267 and threonine for methionine at amino acid 383 (S267F and T383M, respectively). To confirm the role of...

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PMID: 8123642
DOI: 10.1161/01.atv.14.3.381

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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