caa a22 4500 467985634 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428286 doi (NATIONALLICENCE)springer-10.1007/BF02428286 Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate [Elektronische Daten] [Juha Kere, Erkki Savilahti, Reijo Norio, Xavier Estivill, Albert de la Chapelle] Summary: The frequency of mutation ΔF508 was determined in all 20 Finnish cystic fibrosis (CF) families with living affected children (19 with pancreatic insufficiency). ΔF508 was detected in 18 out of 40 CF chromosomes (45%). At least two different mutations associated with pancreatic insufficiently have occurred in a rare haplotype defined by XV2c, CS.7, KM19 alleles 1 2 2. Geographical clustering of ΔF508 and other mutations suggested that a founder effect and genetic drift have influenced the frequency of mutations causing CF in Finland. Springer-Verlag, 1990 Kere Juha Department of Medical Genetics, University of Helsinki, SF-00290, Helsinki, Finland aut Savilahti Erkki Children's Hospital, University of Helsinki, SF-00290, Helsinki, Finland aut Norio Reijo Department of Medical Genetics, The Finnish Population and Family Welfare Federation, SF-00290, Helsinki, Finland aut Estivill Xavier Molecular Genetics Unit, Hospital de la Santa Creu i Sant Pau, E-08025, Barcelona, Spain aut de la Chapelle Albert Department of Medical Genetics, University of Helsinki, SF-00290, Helsinki, Finland aut Human Genetics Springer-Verlag 85/4(1990-09-01), 413-415 0340-6717 85:4<413 1990 85 439 https://doi.org/10.1007/BF02428286 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428286 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kere Juha Department of Medical Genetics, University of Helsinki, SF-00290, Helsinki, Finland aut NATIONALLICENCE 700 1- Savilahti Erkki Children's Hospital, University of Helsinki, SF-00290, Helsinki, Finland aut NATIONALLICENCE 700 1- Norio Reijo Department of Medical Genetics, The Finnish Population and Family Welfare Federation, SF-00290, Helsinki, Finland aut NATIONALLICENCE 700 1- Estivill Xavier Molecular Genetics Unit, Hospital de la Santa Creu i Sant Pau, E-08025, Barcelona, Spain aut NATIONALLICENCE 700 1- de la Chapelle Albert Department of Medical Genetics, University of Helsinki, SF-00290, Helsinki, Finland aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 413-415 0340-6717 85:4<413 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer