Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population. The disease can be caused by one of the more than 900 different mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. However, the deletion of the phe508-codon is the most pre
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Distribution patterns of the ΔF508 mutation in the CFTR gene on CF-linked marker haplotypes in the German population
✍ Scribed by André Reis; Silvia Bremer; Manfred Schlösser; Margarete Dueck; Ingolf Böhm; Joachim Hundrieser; Milan Macek; Manfred Stuhrmann; Michael Wagners; Thilo Dörk; Frank Schnieders; Hans-Georg Posselt; Ulrich Wahn; Jochen Reisse; Friedrich K. Trefz; Burkhard Tümmler; Michael Krawczak; Jörg Schmidtke
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 220 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0340-6717
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In Central Europe, the AF508 deletion accounts for approximately 75% of mutations in the cystic fibrosis transmembrane conductance regulator gene causing cystic fibrosis. The remainder comprise a large number of individually infrequent mutations whose detection requires a disproportionately large ef