Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs

The U1 small nuclear RNA (U1 snRNA) as a component of the major U2-dependent spliceosome recognizes 5′ splice sites (5′ss) containing GT as the canonical dinucleotide in the intronic positions +1 and +2. The c.165+1G>T germline mutation in the 5′ss of exon 2 of the Fanconi anemia C (FANCC) gene c...

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Main Authors: Hartmann, Linda, Neveling, Kornelia, Borkens, Stephanie, Schneider, Hildegard, Freund, Marcel, Grassman, Elke, Theiss, Stephan, Wawer, Angela, Burdach, Stefan, Auerbach, Arleen D., Schindler, Detlev, Hanenberg, Helmut, Schaal, Heiner
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2010
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2948791/
https://ncbi.nlm.nih.gov/pubmed/20869034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.08.016
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