caa a22 4500 467985375 CHVBK 20180323112530.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428270 doi (NATIONALLICENCE)springer-10.1007/BF02428270 Cystic fibrosis in Greece: Typing with DNA probes and identification of the common molecular defect [Elektronische Daten] [A. Balassopoulou, D. Loukopoulos, P. Kollia, M. Devoto, G. Adam, S. Arvanitakis, H. Hadjisevastou] Summary: The relative frequency of the ΔF508 mutation in the Greek population is 54.1%; this is similar to that reported in other Southern European populations and contrasts with the considerably higher frequencies encountered in Northern Europe and North America. The low frequency is in agreement with the linkage disequilibrium already reported between cystic fibrosis and haplotype B in this country. In contrast to the common association of pancreatic insufficiency with the homozygous ΔF508 genotype, the present study revealed two homozygous children with no evidence of pancreatic failure. Springer-Verlag, 1990 Balassopoulou A. First Department of Medicine, University of Athens Medical School "Laikon” Hospital, GR-11527, Athens, Greece aut Loukopoulos D. First Department of Medicine, University of Athens Medical School "Laikon” Hospital, GR-11527, Athens, Greece aut Kollia P. First Department of Medicine, University of Athens Medical School "Laikon” Hospital, GR-11527, Athens, Greece aut Devoto M. Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Largo G. Gaslini, 5, I-16147, Genoa, Italy aut Adam G. Cystic Fibrosis Clinic, "Choremeion” Research Center, Aghia Sophia Children's Hospital, GR-11527, Athens, Greece aut Arvanitakis S. Cystic Fibrosis Clinic, Department of Pediatrics, Central General Hospital, GR-54635, Thessaloniki, Greece aut Hadjisevastou H. Laboratory of Cytogenetics, First Department of Pediatrics, "Hippokrateion” University Hospital, GR-54642, Thessaloniki, Greece aut Human Genetics Springer-Verlag 85/4(1990-09-01), 393-394 0340-6717 85:4<393 1990 85 439 https://doi.org/10.1007/BF02428270 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428270 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Balassopoulou A. First Department of Medicine, University of Athens Medical School "Laikon” Hospital, GR-11527, Athens, Greece aut NATIONALLICENCE 700 1- Loukopoulos D. First Department of Medicine, University of Athens Medical School "Laikon” Hospital, GR-11527, Athens, Greece aut NATIONALLICENCE 700 1- Kollia P. First Department of Medicine, University of Athens Medical School "Laikon” Hospital, GR-11527, Athens, Greece aut NATIONALLICENCE 700 1- Devoto M. Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Largo G. Gaslini, 5, I-16147, Genoa, Italy aut NATIONALLICENCE 700 1- Adam G. Cystic Fibrosis Clinic, "Choremeion” Research Center, Aghia Sophia Children's Hospital, GR-11527, Athens, Greece aut NATIONALLICENCE 700 1- Arvanitakis S. Cystic Fibrosis Clinic, Department of Pediatrics, Central General Hospital, GR-54635, Thessaloniki, Greece aut NATIONALLICENCE 700 1- Hadjisevastou H. Laboratory of Cytogenetics, First Department of Pediatrics, "Hippokrateion” University Hospital, GR-54642, Thessaloniki, Greece aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 393-394 0340-6717 85:4<393 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer