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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...

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Identifiers

PMID: 8242069
DOI: 10.1093/hmg/2.9.1455

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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