A mutation in the surfactant protein C gene associated with familial interstitial lung disease

N Engl J Med. 2001 Feb 22;344(8):573-9. doi: 10.1056/NEJM200102223440805.
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

  • Base Sequence
  • Chronic Disease
  • DNA, Complementary / analysis
  • Female
  • Humans
  • Immunoblotting
  • Infant
  • Lung / chemistry*
  • Lung / pathology
  • Lung Diseases, Interstitial / genetics*
  • Lung Diseases, Interstitial / pathology
  • Point Mutation*
  • Proteolipids / analysis*
  • Proteolipids / genetics*
  • Pulmonary Surfactants / analysis*
  • Pulmonary Surfactants / genetics*
  • RNA / analysis
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Sequence Analysis, RNA

Substances

  • DNA, Complementary
  • Proteolipids
  • Pulmonary Surfactants
  • RNA