CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis.

@article{Hirtz2004CFTRCC,
  title={CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis.},
  author={Stephanie Hirtz and Tanja Gonska and Hans Hermann Seydewitz and J{\"o}rg Thomas and Peter Greiner and Joachim Kuehr and Matthias Brandis and Irmgard Eichler and Herculano Rocha and Ana-Isabel Lopes and Celeste Barreto and Anabela S. Ramalho and Margarida D Amaral and Karl Kunzelmann and Marcus Mall},
  journal={Gastroenterology},
  year={2004},
  volume={127 4},
  pages={1085-95}
}
BACKGROUND & AIMS Cystic fibrosis (CF) is caused by over 1000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and presents with a widely variable phenotype. Genotype-phenotype studies identified CFTR mutations that were associated with pancreatic sufficiency (PS). Residual Cl- channel function was shown for selected PS mutations in heterologous cells. However, the functional consequences of most CFTR mutations in native epithelia are not well established… CONTINUE READING

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