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Article

Phenotypic variation of mutations in the human lipoprotein-lipase gene.

Biochemical Society transactions - 1 May 1993

Hayden M R, Kastelein J J, Funke H, Brunzell J D, Ma Y

Abstract excerpt

We have described a large number of different mutations in the LPL gene that result in completely catalytically defective LPL protein. More recently exonic polymorphisms in the LPL gene have been described that do not result in the catalytic activity of LPL being significantly impaired. Furthermore we have recently described a patient who is homozygous for a mutation in the LPL gene in a conserved region of exon...

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Identifiers

PMID: 8359520
DOI: 10.1042/bst0210506

Genes

LPL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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