[HTML][HTML] Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9
F Pagani, E Buratti, C Stuani, FE Baralle - Journal of Biological Chemistry, 2003 - ASBMB
Exonic sequence variations may induce exon inclusion or exclusion from the mature mRNA
by disrupting exonic regulatory elements and/or by affecting a nuclear reading frame
scanning mechanism. We have carried out a systematic study of the effect on cystic fibrosis
transmembrane regulator exon 9 splicing of natural and site-directed sequence mutations.
We have observed that changes in the splicing pattern were not related to the creation of
premature termination codons, a fact that indicates the lack of a significant nuclear check of …
by disrupting exonic regulatory elements and/or by affecting a nuclear reading frame
scanning mechanism. We have carried out a systematic study of the effect on cystic fibrosis
transmembrane regulator exon 9 splicing of natural and site-directed sequence mutations.
We have observed that changes in the splicing pattern were not related to the creation of
premature termination codons, a fact that indicates the lack of a significant nuclear check of …