Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease

N Engl J Med. 1990 Dec 13;323(24):1685-9. doi: 10.1056/NEJM199012133232407.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Base Sequence
  • Child
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics*
  • Exons
  • Female
  • Humans
  • Lung / physiopathology
  • Lung Diseases / complications
  • Lung Diseases / genetics
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction