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
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference8 articles.
1. Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9;Buratti;J Biol Chem,2001
2. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping;Buratti;EMBO J,2001
3. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes: the polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation;Cuppens;J Clin Invest,1998
4. Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels;Delaney;Nat Genet,1993
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