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2. The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. Brasell EJ; Chu L; El Kares R; Seo JH; Loesch R; Iglesias DM; Goodyer P Pediatr Nephrol; 2019 May; 34(5):873-881. PubMed ID: 30413946 [TBL] [Abstract][Full Text] [Related]
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8. CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report. Papizh S; Serzhanova V; Filatova A; Skoblov M; Tabakov V; van den Heuvel L; Levtchenko E; Prikhodina L BMC Nephrol; 2019 Oct; 20(1):400. PubMed ID: 31672123 [TBL] [Abstract][Full Text] [Related]
9. [From gene to disease: cystinosis]. Levtchenko EN; Wilmer M; de Graaf-Hess AC; van den Heuvel LP; Blom H; Monnens LA Ned Tijdschr Geneeskd; 2004 Mar; 148(10):476-8. PubMed ID: 15042893 [TBL] [Abstract][Full Text] [Related]
10. Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. Napolitano G; Johnson JL; He J; Rocca CJ; Monfregola J; Pestonjamasp K; Cherqui S; Catz SD EMBO Mol Med; 2015 Feb; 7(2):158-74. PubMed ID: 25586965 [TBL] [Abstract][Full Text] [Related]
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