A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.

Antzeko izenburuak

• A cystic fibrosis patient homozygous for the nonsense mutation R553X.
  nork: Bal, J, et al.
  Argitaratua: (1991)
• A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies
  nork: McHugh, Daniel R., et al.
  Argitaratua: (2018)
• Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
  nork: Bienvenu, T, et al.
  Argitaratua: (1993)
• A Novel G542X CFTR Rat Model of Cystic Fibrosis Is Sensitive to Nonsense Mediated Decay
  nork: Sharma, Jyoti, et al.
  Argitaratua: (2020)
• A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.
  nork: Will, K, et al.
  Argitaratua: (1994)