caa a22 4500 467985332 CHVBK 20180323112530.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428272 doi (NATIONALLICENCE)springer-10.1007/BF02428272 Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families [Elektronische Daten] [M. Chillón, V. Nunes, T. Casals, F. Giménez, E. Fernández, J. Benítez, X. Estivill] Summary: Spanish cystic fibrosis (CF) families (n = 194) have been analysed for the ΔF508 mutation, and for closely linked DNA markers. The ΔF508 mutation accounts for 50% of CF chromosomes. Four haplotypes are associated with the deletion, and at least seven haplotypes carry other mutations. The second major CF mutation is associated with pancreatic insufficiency and occurred in the same haplotype in which the ΔF508 arose. Only 31% of Spanish CF patients with no family history of the disease can be accurately diagnosed; about 50% of CF carriers can be detected in the Spanish population. Springer-Verlag, 1990 Chillón M. Department of Medical and Molecular Genetics, "Fundació d'Investigació Santa Creu i Sant Pau”, Pare Claret, 167, E-08025, Barcelona, Spain aut Nunes V. Department of Medical and Molecular Genetics, "Fundació d'Investigació Santa Creu i Sant Pau”, Pare Claret, 167, E-08025, Barcelona, Spain aut Casals T. Department of Medical and Molecular Genetics, "Fundació d'Investigació Santa Creu i Sant Pau”, Pare Claret, 167, E-08025, Barcelona, Spain aut Giménez F. Department of Medical and Molecular Genetics, "Fundació d'Investigació Santa Creu i Sant Pau”, Pare Claret, 167, E-08025, Barcelona, Spain aut Fernández E. Department of Medical and Molecular Genetics, "Fundació d'Investigació Santa Creu i Sant Pau”, Pare Claret, 167, E-08025, Barcelona, Spain aut Benítez J. Genetics Department, "Fundación Jimínez-Díaz”, E-28040, Madrid, Spain aut Estivill X. Department of Medical and Molecular Genetics, "Fundació d'Investigació Santa Creu i Sant Pau”, Pare Claret, 167, E-08025, Barcelona, Spain aut Human Genetics Springer-Verlag 85/4(1990-09-01), 396-397 0340-6717 85:4<396 1990 85 439 https://doi.org/10.1007/BF02428272 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428272 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Chillón M. Department of Medical and Molecular Genetics, "Fundació d'Investigació Santa Creu i Sant Pau”, Pare Claret, 167, E-08025, Barcelona, Spain aut NATIONALLICENCE 700 1- Nunes V. Department of Medical and Molecular Genetics, "Fundació d'Investigació Santa Creu i Sant Pau”, Pare Claret, 167, E-08025, Barcelona, Spain aut NATIONALLICENCE 700 1- Casals T. Department of Medical and Molecular Genetics, "Fundació d'Investigació Santa Creu i Sant Pau”, Pare Claret, 167, E-08025, Barcelona, Spain aut NATIONALLICENCE 700 1- Giménez F. Department of Medical and Molecular Genetics, "Fundació d'Investigació Santa Creu i Sant Pau”, Pare Claret, 167, E-08025, Barcelona, Spain aut NATIONALLICENCE 700 1- Fernández E. Department of Medical and Molecular Genetics, "Fundació d'Investigació Santa Creu i Sant Pau”, Pare Claret, 167, E-08025, Barcelona, Spain aut NATIONALLICENCE 700 1- Benítez J. Genetics Department, "Fundación Jimínez-Díaz”, E-28040, Madrid, Spain aut NATIONALLICENCE 700 1- Estivill X. Department of Medical and Molecular Genetics, "Fundació d'Investigació Santa Creu i Sant Pau”, Pare Claret, 167, E-08025, Barcelona, Spain aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 396-397 0340-6717 85:4<396 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer