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Article

Correct usage of a mutated G+1 splice site and transcript quantitation in a lipoprotein lipase-deficient patient.

Human molecular genetics - 1 Sept 1993

Pepe G, Chimienti G

Abstract excerpt

The consequence on the splice mechanism of a mutation occurring at the donor splice site of intron 1 has been studied. We demonstrate that, in spite of the change at G+1 position, this site is still utilized and can produce correctly spliced transcript. Nevertheless the mRNA is detectable only after an 'in vitro' amplification. A procedure has been developed to reveal and quantify the minute amount present in the...

Topics

Adult
Amino Acid Sequence
Base Sequence
DNA, Complementary
Humans
Lipoprotein Lipase
Male
Molecular Sequence Data
Mutation
RNA Splicing
RNA, Messenger
RNA, Small Nuclear

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Transcription, Genetic

Source

Identifiers

PMID: 8242069
DOI: 10.1093/hmg/2.9.1455

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8242069-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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