• Report  

      Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11 

      Neocleous, Vassos; Yiallouros, Panayiotis K.; Tanteles, George A.; Costi, Constantina; Moutafi, Maria; Ioannou, Phivos; Patsalis, Philippos C.; Sismani, Carolina; Phylactou, Leonidas A. (Hindawi Limited, 2014)
      We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4-11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both ...
    • Article  

      Cystic fibrosis patients from the black sea region: The 1677delTA mutation 

      Angelicheva, D.; Boteva, Kalina; Jordanova, A.; Savov, A.; Kufardjieva, A.; Tolun, A.; Telatar, M.; Akarsubaşi, A.; Köprübaşi, F.; Aydoǧdu, S.; Demirkol, M.; Kurdoǧlu, G.; Constantinou-Deltas, Constantinos D.; Georgiou, Christina; Dean, M.; Ivaschenko, T.; Baranov, V.; Kalaydjieva, L. (1994)
      A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. ...