Article
The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation.
Genomics - 1 Nov 1998
Chiba-Falek O, Kerem E, Shoshani T, Aviram M, Augarten A, Bentur L, Tal A, Tullis E, Rahat A, Kerem B
Abstract excerpt
Disease severity varies among cystic fibrosis (CF) patients carrying the same CFTR genotype. Here we studied the mechanism underlying disease variability in individuals carrying a splicing CFTR mutation, 3849+10 kb C-->T. This mutation was shown to produce both correctly and aberrantly spliced CF...
Topics
- Adolescent
- Adult
- Alternative Splicing
- Child
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Forced Expiratory Volume
- Genotype
- Humans
- Introns
- Male
- Mutation
- Penetrance
- Phenotype
- RNA
- RNA Splicing
- Reverse Transcriptase Polymerase Chain Reaction