Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

Documenti analoghi

• Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
  di: Bienvenu, T, et al.
  Pubblicazione: (1993)
• Pancreatic function and gene deletion F508 in cystic fibrosis.
  di: Borgo, G, et al.
  Pubblicazione: (1990)
• Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.
  di: Beaudet, A L, et al.
  Pubblicazione: (1991)
• Cystic fibrosis mutations in heterozygous newborns with hypertrypsinemia and low sweat chloride.
  di: Castellani, C, et al.
  Pubblicazione: (1999)
• A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.
  di: Nunes, V, et al.
  Pubblicazione: (1992)