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.
Buratti
Emanuele
E
Brindisi
Antonia
A
Pagani
Franco
F
Baralle
Francisco E
FE
D017398:Alternative Splicing; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D018900:Dinucleotide Repeats / Q000235:genetics; D005091:Exons / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D019683:Penetrance; D010641:Phenotype
C505032:CFTR protein, human; D004268:DNA-Binding Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator