Article
Geographic distribution and origin of CFTR mutations in Germany.
Human genetics - 1 Jun 1996
Tümmler B, Storrs T, Dziadek V, Dörk T, Meitinger T, Golla A, Bertele-Harms R M, Harms H K, Schröder E, Claass A, Rutjes J, Schneppenheim R, Bauer I, Breuel K, Stuhrmann M, Schmidtke J, Lindner M, Eigel A, Horst J, Kaiser R, Lentze M J, Schmidt K, von der Hardt H, Estivill X
Abstract excerpt
The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation. delta F508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P...
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