A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.

Documenti analoghi

• Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.
  di: Casals, T, et al.
  Pubblicazione: (1992)
• Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.
  di: Casals, T, et al.
  Pubblicazione: (1991)
• 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.
  di: Chillón, M, et al.
  Pubblicazione: (1995)
• Two frameshift mutations in the cystic fibrosis gene
  di: Iannuzzi, Michael C., et al.
  Pubblicazione: (1991)
• PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation
  di: Nunes, V., et al.
  Pubblicazione: (1990)