leky-latky/cftr-protein/mutace/mutace-5

Class V mutations

• Affect the splicing machinery
• Generate both aberrantly and correctly spliced transcripts
• Levels of which vary among different patients and among different organs of the same patient
• Splicing factors that promote
• Exon inclusion
• Factors that promote exon skipping
• Can promote increases of correctly spliced transcripts, depending on the molecular defect.
• Inconsistent results were reported
• Regarding the required level of corrected or mutated CFTR that had to be reached in order to achieve normal function. [8]