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Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients

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Abstract

We have conducted a comprehensive study of the molecular basis of cystic fibrosis (CF) in 350 German CF patients. A screening approach based on single-strand conformation analysis and direct sequencing of genomic polymerase chain reaction products has allowed us to detect the molecular defects on 95.4% of the CF chromosomes within the coding region and splice sites of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The spectrum of sequence changes comprises 54 different mutations, including 17 missense mutations, 14 nonsense mutations, 11 frameshift mutations, 10 splice site variants and two amino acid deletions. Eleven of these mutations have not previously been described. Our results reflect the marked mutational heterogeneity of CF in a large sample of patients from a non-isolated population.

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Authors and Affiliations

  1. Klinische Forschergruppe “Molekulare Pathologie der Mukoviszidose” OE 6711, Medizinische Hochschule Hannover, D-30623, Hannover, Germany

    Thilo Dörk, Frauke Mekus, Karen Schmidt, Jutta Boßhammer, Rainer Fislage, Thomas Heuer, Violetta Dziadek, Thomas Neumann, Nanette Kälin, Ulrich Wulbrand, Brigitte Wulf & Burkhard Tümmler

  2. Abteilung Pädiatrische Pneumologie, Medizinische Hochschule Hannover, D-30623, Hannover, Germany

    Horst von der Hardt

  3. Abteilung Biophysikalische Chemie, Medizinische Hochschule Hannover, D-30623, Hannover, Germany

    Günther Maaß

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  1. Thilo Dörk
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  2. Frauke Mekus
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  3. Karen Schmidt
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  4. Jutta Boßhammer
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  5. Rainer Fislage
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  6. Thomas Heuer
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  7. Violetta Dziadek
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  8. Thomas Neumann
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  9. Nanette Kälin
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  10. Ulrich Wulbrand
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  14. Burkhard Tümmler
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Dörk, T., Mekus, F., Schmidt, K. et al. Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet 94, 533–542 (1994). https://doi.org/10.1007/BF00211022

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  • DOI: https://doi.org/10.1007/BF00211022

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