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Cystic fibrosis haplotype association and the ΔF508 mutation in adult British CF patients

  • Population analysis of the major mutation in cystic fibrosis
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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.

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Authors and Affiliations

  1. Department of Cystic Fibrosis, Brompton Hospital, Fulham Road, SW3, London, UK

    George Santis, Lucy Osborne, Richard Knight & Margaret Hodson

  2. Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Norfolk Place, WC2, London, UK

    Michelle Ramsay & Robert Williamson

Authors
  1. George Santis
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  2. Lucy Osborne
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  3. Richard Knight
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  4. Michelle Ramsay
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  5. Robert Williamson
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  6. Margaret Hodson
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Santis, G., Osborne, L., Knight, R. et al. Cystic fibrosis haplotype association and the ΔF508 mutation in adult British CF patients. Hum Genet 85, 424–425 (1990). https://doi.org/10.1007/BF02428295

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  • DOI: https://doi.org/10.1007/BF02428295

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