Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene

This publication has 3 references indexed in Scilit:

• Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease
  New England Journal of Medicine, 1990
• The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF₅₀₈)
  New England Journal of Medicine, 1990
• A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
  Nature, 1990