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

Podobne zapisy

• A Case of Cystic Fibrosis With a Rare Mutation (3849 + 10 kbC > T) and Normal Sweat Chloride Levels
  od: Ozdemir, Taha Resid, i wsp.
  Wydane: (2015)
• Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
  od: Gasparini, P, i wsp.
  Wydane: (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.
  od: Chillón, M, i wsp.
  Wydane: (1995)
• Ivacaftor in People with Cystic Fibrosis and a 3849+10kb C→T or D1152H Residual Function Mutation
  od: Kerem, Eitan, i wsp.
  Wydane: (2021)
• A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.
  od: Nunes, V, i wsp.
  Wydane: (1992)