Browsing by Subject "Patients"

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    • 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 ...