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A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis

Mutations within exons are responsible for aberrant splicing of pre-mRNA in several human disease genes and in some viral systems. Nonsense, missense, and even synonymous mutations can induce aberrant skipping of the mutant exon, producing nonfunctional proteins. In this paper, we describe the effec...

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Hlavní autoři: Faa′, Valeria, Coiana, Alessandra, Incani, Federica, Costantino, Lucy, Cao, Antonio, Rosatelli, Maria Cristina
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Investigative Pathology 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2860476/
https://ncbi.nlm.nih.gov/pubmed/20190016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2010.090126
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