Two novel mutations in surfactant protein-C, lung function and obstructive lung disease.

@article{BaekvadHansen2010TwoNM,
  title={Two novel mutations in surfactant protein-C, lung function and obstructive lung disease.},
  author={Marie Baekvad-Hansen and B\orge G. Nordestgaard and Anne Tybjaerg-Hansen and Morten Dahl},
  journal={Respiratory medicine},
  year={2010},
  volume={104 3},
  pages={418-25}
}
Dominant mutations in the surfactant protein-C(SFTPC) gene have been linked with interstitial lung disease. The frequency of lung disease due to SFTPC mutations in the general population is unknown. The aim of this study was to identify novel SFTPC mutations that are associated with lung function or disease in the general population. We resequenced the SFTPC gene in 760 individuals and identified 18 genetic variants, of which 5 were novel. Of the five novel mutations, two were situated in… CONTINUE READING

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