CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity

  title={CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity},
  author={C. Blaisdell and Timothy D. Howard and Augustus Stern and Penelope Bamford and Eugene Bleecker and Oscar Colin Stine},
  journal={BMC Medical Genetics},
  pages={26 - 26}
Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes… CONTINUE READING


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