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Article

A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family.

Biochemical and biophysical research communications - 16 Sept 1992

Chimienti G, Capurso A, Resta F, Pepe G

Abstract excerpt

We describe a new case of lipoprotein lipase deficiency in a proband from a Southern-Italian family. Enzyme activity and mass were absent. Amplification and sequencing of individual exons, intron boundaries and the regulatory region revealed only one homozygous G----C transversion at the first nucleotide of intron 1. The single strand conformation polymorphism analysis proved to be a helpful tool for the...

Topics

Adult
Base Sequence
Blotting, Southern
DNA
Humans
Hyperlipoproteinemia Type I
Introns
Italy
Lipoprotein Lipase
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nucleic Acid Hybridization

Polymerase Chain Reaction

RNA Splicing

Regulatory Sequences, Nucleic Acid

Source

Identifiers

PMID: 1530621
DOI: 10.1016/0006-291x(92)91240-q

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1530621-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family.PMID 1530621Read ↗

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