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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Autores principales: Faa′, Valeria, Coiana, Alessandra, Incani, Federica, Costantino, Lucy, Cao, Antonio, Rosatelli, Maria Cristina
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Investigative Pathology 2010
Materias:
Consultations in Molecular Diagnostics
Acceso en línea: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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