Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation

Eur Respir J. 2004 Dec;24(6):1072-3. doi: 10.1183/09031936.04.00092304.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Base Sequence
  • Biopsy, Needle
  • Blotting, Western
  • Fatal Outcome
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Humans
  • Immunohistochemistry
  • Infant
  • Infant, Newborn
  • Lung Diseases, Interstitial / genetics*
  • Lung Diseases, Interstitial / pathology*
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Polymerase Chain Reaction
  • Prognosis
  • Protein C / genetics*
  • Sensitivity and Specificity

Substances

  • Protein C