A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity.

doi:10.1111/j.1432-1033.1992.tb17182.x

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Article

A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity.

European journal of biochemistry - 1 Sept 1992

Bruin T, Kastelein J J, Van Diermen D E, Ma Y, Henderson H E, Stuyt P M, Stalenhoef A F, Sturk A, Brunzell J D, Hayden M R

Abstract excerpt

Here we report on the molecular defect that leads to a deficiency of lipoprotein lipase (LPL) activity in a proband of Dutch descent. Southern-blot analysis of the LPL gene from the patient did not reveal any major DNA rearrangements. Sequencing of polymerase-chain-reaction-amplified DNA revealed that the proband is a homozygote for G725C, resulting in a substitution of Pro157 for Arg. This substitution alters a...

Topics

Adult
Amino Acid Sequence
Arginine
Base Sequence
Blotting, Southern
Catalysis
Cell Line
Deoxyribonucleases, Type II Site-Specific
Female
Humans
Hyperlipoproteinemia Type I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lipoprotein Lipase

Molecular Sequence Data

Mutagenesis, Site-Directed

Mutation

Pedigree

Polymerase Chain Reaction

Proline

Source

Open in PubMed

Identifiers

PMID: 1521525
DOI: 10.1111/j.1432-1033.1992.tb17182.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1521525-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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