[HTML][HTML] Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides
KJ Friedman, J Kole, JA Cohn, MR Knowles… - Journal of Biological …, 1999 - ASBMB
The CFTR splicing mutation 3849+ 10 kb C→ T creates a novel donor site 10 kilobases (kb)
into intron 19 of the gene and is one of the more common splicing mutations that causes
cystic fibrosis (CF). It has an elevated prevalence among patients with atypically mild
disease and normal sweat electrolytes and is especially prominent in Ashkenazi Jews. This
class of splicing mutations, reported in several genes, involves novel splice sites activated
deep within introns while leaving wild-type splice elements intact. CFTR cDNA constructs …
into intron 19 of the gene and is one of the more common splicing mutations that causes
cystic fibrosis (CF). It has an elevated prevalence among patients with atypically mild
disease and normal sweat electrolytes and is especially prominent in Ashkenazi Jews. This
class of splicing mutations, reported in several genes, involves novel splice sites activated
deep within introns while leaving wild-type splice elements intact. CFTR cDNA constructs …