Late CF caused by homozygous IVS8-5T CFTR polymorphism

Eitemau Tebyg

• CFTR and differentiation markers expression in non-CF and delta F 508 homozygous CF nasal epithelium.
  gan: Dupuit, F, et al.
  Cyhoeddwyd: (1995)
• Lumacaftor/ivacaftor combination for CF patients homozygous for Phe508del-CFTR
  gan: Zhang, Weiqiang, et al.
  Cyhoeddwyd: (2016)
• Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation
  gan: Mutyam, Venkateshwar, et al.
  Cyhoeddwyd: (2016)
• CFTR gene variant IVS8-5T in disseminated bronchiectasis.
  gan: Pignatti, P. F., et al.
  Cyhoeddwyd: (1996)
• CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.
  gan: Will, K, et al.
  Cyhoeddwyd: (1993)