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Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients

  • Population analysis of the major mutation in cystic fibrosis
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Summary

The F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was found in 8 out of 30 Turkish cystic fibrosis (CF) chromosomes (27%). Five Turkish ΔF508 CF chromosomes were associated with the risk haplotype B in KM19 (2 allele)/XV2c (1 allele). In the Turkish population, cystic fibrosis is predominantly caused by mutations other than the F508 deletion.

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Authors and Affiliations

  1. Abteilung Humangenetik, Konstanty-Gutschow-Strasse 8, D-3000, Hannover 61, Germany

    Joachim Hundrieser & Nicola Hoffknecht

  2. Abteilung Biophysikalische Chemie, Medizinische Hochschule, Konstanty-Gutschow-Strasse 8, D-3000, Hannover 61, Germany

    Silvia Bremer, Brigitte Wulf, Günter Maaß & Burkhard Tümmler

  3. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany

    Frank Peinemann & Jochen Reiss

  4. Institut für Humangenetik, Freie Universität, Heubnerweg 6, D-1000, Berlin 19, Germany

    Manfred Stuhrmann & Jörg Schmidtke

Authors
  1. Joachim Hundrieser
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  2. Silvia Bremer
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  3. Frank Peinemann
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  4. Manfred Stuhrmann
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  5. Nicola Hoffknecht
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  6. Brigitte Wulf
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  7. Jörg Schmidtke
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  8. Jochen Reiss
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  9. Günter Maaß
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  10. Burkhard Tümmler
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Hundrieser, J., Bremer, S., Peinemann, F. et al. Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients. Hum Genet 85, 409–410 (1990). https://doi.org/10.1007/BF02428283

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  • DOI: https://doi.org/10.1007/BF02428283

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