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.

Những quyển sách tương tự

• SSCP-polymorphism in intron 12 of the CFTR gene recognized by Bcll
  Bằng: Chillón, M., et al.
  Được phát hành: (1991)
• Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients
  Bằng: Reboul, M, et al.
  Được phát hành: (2002)
• SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer
  Bằng: Buratti, Emanuele, et al.
  Được phát hành: (2007)
• Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
  Bằng: Morral, N., et al.
  Được phát hành: (1994)
• Evolution of Exon-Intron Structure and Alternative Splicing
  Bằng: Koralewski, Tomasz E., et al.
  Được phát hành: (2011)