Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

doi:10.1172/JCI115229

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Article

Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

The Journal of clinical investigation - 1 Jun 1991

Henderson H E, Ma Y, Hassan M F, Monsalve M V, Marais A D, Winkler F, Gubernator K, Peterson J, Brunzell J D, Hayden M R

Abstract excerpt

Studies on the molecular biology of lipoprotein lipase (LPL) deficiency have been facilitated by the availability of LPL gene probes and the recent characterization of gene mutations underlying human LPL deficiency. Typically, missense mutations have predominated and show a preferential localization to exons 4 and 5. This distribution supports earlier studies attributing functional significance to residues...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Binding Sites
Biological Evolution
DNA Mutational Analysis
Gene Amplification
Haplotypes
Humans
Lipoprotein Lipase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Protein Conformation

Structure-Activity Relationship

Transfection

Source

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Identifiers

PMID: 1674945
DOI: 10.1172/JCI115229
PMCID: PMC296955

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1674945-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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