caa a22 4500 467986576 CHVBK 20180323112533.0 cr unu---uuuuu 170328e19901201xx s 000 0 eng 10.1007/BF00197712 doi (NATIONALLICENCE)springer-10.1007/BF00197712 The major cystic fibrosis mutation in a British population [Elektronische Daten] [C. McMahon, S. Genet, H. Middleton-Price, P. Rutland, M. Pembrey, S. Malcolm] Summary: We have studied 72 families with at least one child with cystic fibrosis (CF); they were referred because they had requested pre-natal diagnosis in a future pregnancy. The ΔF508 mutation was found in 108/140 CF chromosomes (77%). In 41/72 families (57%), both parents carried a deleted chromosome and the child was doubly deleted. In only 4 families, 2 of them being consanguineous, did neither parent carry a deleted chromosome. Meconium ileus was associated with children who were ΔF508/ΔF508, ΔF508/non-deleted and non-deleted/ non-deleted. Springer-Verlag, 1990 McMahon C. Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut Genet S. Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut Middleton-Price H. Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut Rutland P. Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut Pembrey M. Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut Malcolm S. Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut Human Genetics Springer-Verlag 86/2(1990-12-01), 236-237 0340-6717 86:2<236 1990 86 439 https://doi.org/10.1007/BF00197712 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00197712 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- McMahon C. Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut NATIONALLICENCE 700 1- Genet S. Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut NATIONALLICENCE 700 1- Middleton-Price H. Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut NATIONALLICENCE 700 1- Rutland P. Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut NATIONALLICENCE 700 1- Pembrey M. Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut NATIONALLICENCE 700 1- Malcolm S. Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/2(1990-12-01), 236-237 0340-6717 86:2<236 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer