Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Antzeko izenburuak

• A Case of Cystic Fibrosis With a Rare Mutation (3849 + 10 kbC > T) and Normal Sweat Chloride Levels
  nork: Ozdemir, Taha Resid, et al.
  Argitaratua: (2015)
• Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
  nork: Gasparini, P, et al.
  Argitaratua: (1992)
• A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
  nork: Chillón, M, et al.
  Argitaratua: (1995)
• Ivacaftor in People with Cystic Fibrosis and a 3849+10kb C→T or D1152H Residual Function Mutation
  nork: Kerem, Eitan, et al.
  Argitaratua: (2021)
• A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.
  nork: Nunes, V, et al.
  Argitaratua: (1992)