Cystic fibrosis: defining a disease under-diagnosed in Pakistan.

  title={Cystic fibrosis: defining a disease under-diagnosed in Pakistan.},
  author={Uzma Shah and Phillipe Frossard and Tariq Moatter},
  journal={Tropical medicine & international health : TM & IH},
  volume={14 5},
OBJECTIVE Cystic fibrosis is frequently missed in the Pakistani population due to lack of appropriate diagnostic tools. Thus our aim was to define unknown disease-causing mutations to help create suitable diagnostic tests and improve understanding of what appears to be an aggressive and under-diagnosed disease in this population. METHODS Patients with elevated sweat chloride values and clinically suspected CF were recruited from Aga Khan University, Pakistan. Mutations DF508, S549R, S549N… CONTINUE READING

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