Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation.

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Article

Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation.

Journal of lipid research - 1 Oct 1993

Kozaki K, Gotoda T, Kawamura M, Shimano H, Yazaki Y, Ouchi Y, Orimo H, Yamada N

Abstract excerpt

We have previously reported a Trp382 (TGG)-->stop (TGA) mutation that causes familial lipoprotein lipase (LPL) deficiency. Expression study of the Trp382-->stop mutant showed that the truncated LPL was catalytically inactive with a marked reduction in the expressed mass. To investigate the minima...

Topics

Amino Acid Sequence
Animals
Base Sequence
Blotting, Northern
Cell Line
Chlorocebus aethiops
Consanguinity
Female
Humans
Hyperlipoproteinemia Type I
Infant
Kidney
Lipoprotein Lipase
Molecular Sequence Data
Mutagenesis, Site-Directed
Mutation
RNA, Messenger
Transfection

Source

Open in PubMed

Identifiers

PMID: 8245726

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8245726-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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