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Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients |
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| Authors: | Joachim Hundrieser Silvia Bremer Frank Peinemann Manfred Stuhrmann Nicola Hoffknecht Brigitte Wulf Jörg Schmidtke Jochen Reiss Günter Maaß Burkhard Tümmler |
| Institution: | 1. Abteilung Humangenetik, Konstanty-Gutschow-Strasse 8, D-3000, Hannover 61, Germany 2. Abteilung Biophysikalische Chemie, Medizinische Hochschule, Konstanty-Gutschow-Strasse 8, D-3000, Hannover 61, Germany 3. Institut für Humangenetik der Universit?t, Gosslerstrasse 12d, D-3400, G?ttingen, Germany 4. Institut für Humangenetik, Freie Universit?t, Heubnerweg 6, D-1000, Berlin 19, Germany |
| Abstract: | 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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