Late CF caused by homozygous IVS8-5T CFTR polymorphism

Ítems similars

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