Nuclear Factor TDP-43 Binds to the Polymorphic TG Repeats in CFTR Intron 8 and Causes Skipping of Exon 9: A Functional Link with Disease Penetrance

Emanuele Buratti; Antonia Brindisi; Franco Pagani; Francisco E. Baralle

doi:10.1086/420978

Keywords

PenetranceIntronExonGeneticsExon skippingBiologyRNA splicingGeneAlternative splicingPhenotype

MeSH Terms

Alternative SplicingCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorDNA-Binding ProteinsDinucleotide RepeatsExonsGenetic VariationGenotypeHumansIntronsMutationPenetrancePhenotype

Affiliated Institutions

International Centre for Genetic Engineering and Biotechnology IT

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Publication Info

Year: 2004
Type: letter
Volume: 74
Issue: 6
Pages: 1322-1325
Citations: 193
Access: Closed

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APA Style

                            
                                
                                    Emanuele Buratti, 
                                
                                    Antonia Brindisi, 
                                
                                    Franco Pagani
                                
                                et al.
                            
                            (2004). 
                            Nuclear Factor TDP-43 Binds to the Polymorphic TG Repeats in CFTR Intron 8 and Causes Skipping of Exon 9: A Functional Link with Disease Penetrance. 
                            The American Journal of Human Genetics
                            , 74
                            (6)
                            , 1322-1325.
                            https://doi.org/10.1086/420978
                        

Identifiers

DOI: 10.1086/420978
PMID: 15195661
PMCID: PMC1182100

Data Quality

Data completeness: 72%