A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.

Ítems similars

• An arylsulphatase A (ARSA) frameshift mutation (289insG) in metachromatic leukodystrophy (MLD)
  per: Perkins, Kelly J, et al.
  Publicat: (2005)
• Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
  per: Gasparini, P, et al.
  Publicat: (1992)
• A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
  per: Chillón, M, et al.
  Publicat: (1994)
• SSCP-polymorphism in intron 12 of the CFTR gene recognized by Bcll
  per: Chillón, M., et al.
  Publicat: (1991)
• The CFTR frameshift mutation 3905insT and its effect at transcript and protein level
  per: Sanz, Javier, et al.
  Publicat: (2010)