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Article

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.

American journal of human genetics - 1 Feb 1998

Hoffmeyer S, Nürnberg P, Ritter H, Fahsold R, Leistner W, Kaufmann D, Krone W

Abstract excerpt

Stop mutations are known to disrupt gene function in different ways. They both give rise to truncated polypeptides because of the premature-termination codons (PTCs) and frequently affect the metabolism of the corresponding mRNAs. The analysis of neurofibromin transcripts from different neurofibromatosis type 1 (NF1) patients revealed the skipping of exons containing PTCs. The phenomenon of exon skipping induced...

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Identifiers

PMID: 9463322
DOI: 10.1086/301715
PMCID: PMC1376891

Genes

CFTR

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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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