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Article

Trp64----nonsense mutation in the lipoprotein lipase gene.

Journal of lipid research - 1 Jun 1992

Sprecher D L, Kobayashi J, Rymaszewski M, Goldberg I J, Harris B V, Bellet P S, Ameis D, Yunker R L, Black D M, Stein E A

Abstract excerpt

A lipoprotein lipase (LpL) gene defect has been identified, a G----A transition at nucleotide position 446 of exon 3, resulting in a premature termination codon (Trp----stop) at amino acid residue 64. This defect was identified in a Type I hyperlipoproteinemic subject with an amino acid residue 194 defect in the other allele. Plasma lipoprotein values as well as LpL mass and activity in postheparin plasma were...

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PMID: 1512512

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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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Trp64----nonsense mutation in the lipoprotein lipase gene.PMID 1512512Read ↗

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