First report of three cystic fibrosis patients homozygous for the 1717-1G-->A mutation.

Antzeko izenburuak

• A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
  nork: Schloesser, M, et al.
  Argitaratua: (1991)
• Genotype-phenotype correlation in five cystic fibrosis patients homozygous for the 621 + 1G-->T mutation.
  nork: De Braekeleer, M, et al.
  Argitaratua: (1997)
• Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.
  nork: Parad, R B
  Argitaratua: (1996)
• Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
  nork: Bienvenu, T, et al.
  Argitaratua: (1993)
• Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.
  nork: Beaudet, A L, et al.
  Argitaratua: (1991)