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Article

Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.

The Journal of biological chemistry - 5 Oct 1992

Hata A, Ridinger D N, Sutherland S D, Emi M, Kwong L K, Shuhua J, Lubbers A, Guy-Grand B, Basdevant A, Iverius P H

Abstract excerpt

Most missense mutations of the lipoprotein lipase (LPL) gene identified among LPL-deficient subjects cluster in a segment of the sequence that encodes the catalytic triad as well as functional elements involved in the activation of the lipase at lipid-water interfaces. Consequently, loss of activity may result either from direct alterations of such functional elements or from less specific effects on protein...

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Source

Identifiers

PMID: 1400331

Genes

LPL
GAA

Provenance

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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Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.PMID 1400331Read ↗

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