Population
Transfected HeLa cells with beta-globin gene constructs containing the IVS1 + 5 G>A thalassemia mutation and…
Comparison
Experimental activation and inactivation of… vs Conditions of active versus specifically…
Design
Preclinical
Authors
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NMD-resistant transcripts may contribute to disease in hematologic models; leaves open cis-element identification before human translation.
The study demonstrates that NMD controls the splicing process by eliminating frameshifted transcripts, but also reveals an unknown cis-acting determinant that allows certain aberrant transcripts to evade NMD.
Danckwardt et al. (2002) studied this question.
Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context: