Characterization of mutations located in exon 18 of the CFTR gene.

  title={Characterization of mutations located in exon 18 of the CFTR gene.},
  author={Anne Vankeerberghen and Lin Wei and H. Teng and M. W. M. Jaspers and J. J. Cassiman and Bernd Nilius and Harry Cuppens},
  journal={FEBS letters},
  volume={437 1-2},
In order to get a better insight into the function of amino acid residues located in the second transmembrane domain of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, all exon 18 mutations found in cystic fibrosis (CF) patients were characterized at the protein and at the electrophysiological level. Of the different mutations present in transmembrane helix 12 (M1137V, M1137R, I11139V and deltaM1140), and the intracytoplasmic loop connecting TM12 and NBD2 (D1152H and… CONTINUE READING