Article
Splicing modulation as a modifier of the CFTR function.
Progress in molecular and subcellular biology - 1 Jan 2006
Nissim-Rafinia Malka, Kerem Batsheva
Abstract excerpt
A significant fraction of CF-causing mutations affects pre-mRNA splicing. These mutations can generate both aberrant and correct transcripts, the level of which varies among different patients. An inverse correlation was found between this level and disease severity, suggesting a role for splicing regulation as a genetic modifier. Subsequent studies showed that overexpression of splicing factors modulated the...
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