Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation

Thorax. 2011 Oct;66(10):918-9. doi: 10.1136/thx.2010.151407. Epub 2011 Jan 19.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • DNA / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Mutation*
  • Phenotype
  • Pulmonary Emphysema / complications
  • Pulmonary Emphysema / diagnosis
  • Pulmonary Emphysema / genetics*
  • Pulmonary Fibrosis / complications
  • Pulmonary Fibrosis / diagnosis
  • Pulmonary Fibrosis / genetics*
  • Pulmonary Surfactant-Associated Protein C / genetics*
  • Syndrome
  • Tomography, X-Ray Computed

Substances

  • Pulmonary Surfactant-Associated Protein C
  • SFTPC protein, human
  • DNA