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Approaches to Study CFTR Pre-mRNA Splicing Defects.
MedLine Citation:
PMID:  21594784     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
In cystic fibrosis, genomic variants can result in defective processing of the CFTR precursor mRNA. Due to the complexity of the splicing process, the evaluation of their pathological effect is an important aspect both in the diagnostic field and in the study of basic regulatory mechanism. Efficient and correct splicing of CFTR relies on a complex process that includes recognition within the nascent transcripts of a series of different splicing regulatory elements that frequently overlap with the coding sequences. Identification of these elements is essential to determine the pathological impact of splicing-affecting genomic variants. In this chapter, to evaluate the effect of CFTR DNA variations on the pre-mRNA splicing process, different tools based on hybrid minigenes will be described.
Authors:
Elisa Goina; Eugenio Fernandez-Alanis; Franco Pagani
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Methods in molecular biology (Clifton, N.J.)     Volume:  741     ISSN:  1940-6029     ISO Abbreviation:  Methods Mol. Biol.     Publication Date:  2011  
Date Detail:
Created Date:  2011-05-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9214969     Medline TA:  Methods Mol Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  155-69     Citation Subset:  IM    
Affiliation:
Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology, 34149, Trieste, Italy, egoina@sissa.it.
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