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  1. No Access

    Article

    Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection

    Cystic fibrosis (CF) is one of the most common life-shortening genetic disorders, and the CF transmembrane conductance regulator (CFTR) is the major causal gene. However, a substantial clinical variability among ...

    J E Park, R Yung, D Stefanowicz, K Shumansky, L Akhabir, P R Durie… in Genes & Immunity (2011)

  2. No Access

    Article

    Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A)

    We have analyzed 97 CF unrelated Mexican families for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Our initial screening for 12 selected CFTR mutations led to mutation det...

    L. Orozco, R. Velázquez, J. Zielenski, L.-C. Tsui, M. Chávez, J.L. Lezana… in Human Genetics (2000)

  3. No Access

    Article

    Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

    We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdel...

    T. Dörk, M. Macek Jr, F. Mekus, B. Tümmler, J. Tzountzouris, T. Casals… in Human Genetics (2000)

  4. No Access

    Article

    Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

    In order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population, a complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-i...

    T. Onay, O. Topaloglu, J. Zielenski, N. Gokgoz, H. Kayserili… in Human Genetics (1998)

  5. No Access

    Article

    Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

    We describe a polymorphic microsatellite (IVS17BCA) in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It consists of an 11 to 20 CA/GT dinucleotide repeat, located 424 bp fr...

    N. Morral, E. Girbau, J. Zielenski, V. Nunes, T. Casals, L. -C. Tsui… in Human Genetics (1992)