caa a22 4500 467985448 CHVBK 20180323112530.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428295 doi (NATIONALLICENCE)springer-10.1007/BF02428295 Cystic fibrosis haplotype association and the ΔF508 mutation in adult British CF patients [Elektronische Daten] [George Santis, Lucy Osborne, Richard Knight, Michelle Ramsay, Robert Williamson, Margaret Hodson] Summary: The ΔF508 mutation and cystic fibrosis (CF) haplotypes with the markers KM19, pMP6d-9 and J3.11 are described in 54 adult British CF patients. ΔF508 was found on 70% of all CF chromosomes, on none of the normal chromosomes and on only 37.5% of pancreatic sufficient CF chromosomes. All patients with meconium ileus were homozygous for the deletion. Springer-Verlag, 1990 Santis George Department of Cystic Fibrosis, Brompton Hospital, Fulham Road, SW3, London, UK aut Osborne Lucy Department of Cystic Fibrosis, Brompton Hospital, Fulham Road, SW3, London, UK aut Knight Richard Department of Cystic Fibrosis, Brompton Hospital, Fulham Road, SW3, London, UK aut Ramsay Michelle Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Norfolk Place, WC2, London, UK aut Williamson Robert Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Norfolk Place, WC2, London, UK aut Hodson Margaret Department of Cystic Fibrosis, Brompton Hospital, Fulham Road, SW3, London, UK aut Human Genetics Springer-Verlag 85/4(1990-09-01), 424-425 0340-6717 85:4<424 1990 85 439 https://doi.org/10.1007/BF02428295 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428295 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Santis George Department of Cystic Fibrosis, Brompton Hospital, Fulham Road, SW3, London, UK aut NATIONALLICENCE 700 1- Osborne Lucy Department of Cystic Fibrosis, Brompton Hospital, Fulham Road, SW3, London, UK aut NATIONALLICENCE 700 1- Knight Richard Department of Cystic Fibrosis, Brompton Hospital, Fulham Road, SW3, London, UK aut NATIONALLICENCE 700 1- Ramsay Michelle Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Norfolk Place, WC2, London, UK aut NATIONALLICENCE 700 1- Williamson Robert Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Norfolk Place, WC2, London, UK aut NATIONALLICENCE 700 1- Hodson Margaret Department of Cystic Fibrosis, Brompton Hospital, Fulham Road, SW3, London, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 424-425 0340-6717 85:4<424 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer