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Article

The skipping of constitutive exons in vivo induced by nonsense mutations.

Science (New York, N.Y.) - 29 Jan 1993

Dietz H C, Valle D, Francomano C A, Kendzior R J, Pyeritz R E, Cutting G R

Abstract excerpt

Nonsense mutations create a premature signal for the termination of translation of messenger RNA. Such mutations have been observed to cause a severe reduction in the amount of mutant allele transcript or to generate a peptide truncated at the carboxyl end. Analysis of fibrillin transcript from a patient with Marfan syndrome revealed the skipping of a constitutive exon containing a nonsense mutation. Similar...

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Identifiers

PMID: 8430317
DOI: 10.1126/science.8430317

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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