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Letters to the editor
Diagnosing cystic fibrosis
  1. CHRISTOPHER J TAYLOR
  1. Department of Paediatrics, University of Sheffield
  2. Sheffield Children’s Hospital
  3. Western Bank, Sheffield S10 2TH
  4. Department of Human Genetics and Department of Biomedical Science*
  5. University of Sheffield
    1. ANN DALTON,
    2. JACKIE HARDCASTLE

      *

      ,
    3. PETER T HARDCASTLE

      *

      ,
    4. STEVEN EVANS
    1. Department of Paediatrics, University of Sheffield
    2. Sheffield Children’s Hospital
    3. Western Bank, Sheffield S10 2TH
    4. Department of Human Genetics and Department of Biomedical Science*
    5. University of Sheffield

      https://doi.org/10.1136/adc.77.5.463b

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        Editor,—Colin Wallis’ review of diagnostic criteria for cystic fibrosis gave an excellent overview of an increasingly complex subject.1 No longer can cystic fibrosis be diagnosed on the basis of suggestive symptomatology confirmed by sweat testing. Mutation analysis has lead to the identification of many pancreatic sufficient ‘mild mutations’, some of which, including the 3849+1 Okb C-T splicing mutation at intron 192 and the A455E mutation,3 are associated with normal sweat electrolytes. In other cases the phenotype can vary with the length of the …

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