Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients

Podobne zapisy

• Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.
  od: Desgeorges, M, i wsp.
  Wydane: (1994)
• Genetic screening for homozygous and heterozygous familial hypercholesterolemia
  od: Izar, Maria C, i wsp.
  Wydane: (2010)
• 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)
• Heterozygous and homozygous factor H deficiency states in a Dutch family
  od: FIJEN, C A P, i wsp.
  Wydane: (1996)
• The mutagenic chain reaction: a method for converting heterozygous to homozygous mutations
  od: Gantz, Valentino M., i wsp.
  Wydane: (2015)