Browsing Facultad de Ciencias Médicas by Author "Kemp, Stephan"
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Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD
Amorosi, CA; Kemp, Stephan; Dodelson de Kremer, Raquel; Argaraña, Carlos; Ramírez Oller, Ana María (2013)Background: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, characterized by increased concentrations of very long-chain fatty acids due to a defect in peroxisomal β-oxidation. ...