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Article

Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians.

Journal of lipid research - 1 Aug 2003

Ruel Isabelle L, Couture Patrick, Gagne Claude, Deshaies Yves, Simard Jacques, Hegele Robert A, Lamarche Benoît

Abstract excerpt

Individuals with hepatic lipase (HL) deficiency are often characterized by elevated levels of triglycerides (TGs) and cholesterol. The aim of the present study was to characterize the molecular defect leading to severe HL deficiency in a Québec-based kindred. In the proband and two of her brothers, the very low to undetectable HL activity resulted from compound heterozygosity for two rare HL gene mutations, a...

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Identifiers

PMID: 12777476
DOI: 10.1194/jlr.M200479-JLR200

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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