Cystic fibrosis and CFTR
@article{Greger2001CysticFA, title={Cystic fibrosis and CFTR}, author={R. Greger and R. Schreiber and M. Mall and A. Wissner and A. Hopf and M. Briel and M. Bleich and R. Warth and K. Kunzelmann}, journal={Pfl{\"u}gers Archiv}, year={2001}, volume={443}, pages={S3-S7} }
Abstract. Cystic fibrosis (CF) is a complex disease affecting epithelial ion transport. There are not many diseases like CF that have triggered such intense research activities. The complexity of the disease is due to mutations in the CFTR protein, now known to be a Cl– channel and a regulator of other transport proteins. The various interactions and the large number of disease-causing CFTR mutations is the reason for a variable genotype-phenotype correlation and sometimes unpredictable… CONTINUE READING
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