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Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons

11 Nov 2013

Abstract excerpt

About 12% of human genetic disorders involve premature termination codons (PTCs). Aminoglycoside antibiotics have been proposed for restoring full-length proteins by readthrough of PTC. To assess the efficiency of readthrough, we selected homozygous and compound heterozygous skin fibroblasts from xeroderma pigmentosum (XP) patients with different PTCs in the XPC DNA repair gene. XP patients have a nucleotide...

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PMID: 24218596
DOI: 10.1073/pnas.1312088110

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