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Article

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.

European journal of human genetics : EJHG - 1 Oct 2006

Khajavi Mehrdad, Inoue Ken, Lupski James R

Abstract excerpt

The nonsense-mediated decay (NMD) pathway is an mRNA surveillance system that typically degrades transcripts containing premature termination codons (PTCs) in order to prevent translation of unnecessary or aberrant transcripts. Failure to eliminate these mRNAs with PTCs may result in the synthesis of abnormal proteins that can be toxic to cells through dominant-negative or gain-of-function effects. Recent studies...

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Identifiers

PMID: 16757948
DOI: 10.1038/sj.ejhg.5201649

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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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