DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding.

Abstract excerpt

Over one thousand mutations have been identified to date in the cystic fibrosis transmembrane conductance regulator gene ( CFTR); however, about 5-10% of mutations remain undefined. It is likely that some of these undefined mutations occur within regulatory elements for the CFTR gene. Tissue-specific regulatory elements for CFTR are located outside the basal promoter region and may be associated with DNase I...

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